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GENETICS

GENETIC DISORDERS By: ELDIMSON E. BERMU

DR. CESAR DEMAYO

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Table 1. Prenatal Human Karyotypes and Related Clinical Conditions in Live Births

IMAGES MEDICAL

CONDITION

DESCRIPTION OTHER INFORMATION REFERENCES

TRISOMIES

Patau

Syndrome The extra copy of chromosome 13

in Patau syndrome causes severe

neurological and heart defects

which make it difficult for infants to

survive.

-characterized by multiple

malformations, commonly

including scalp defects,

hemangiomas of the face and

nape of the neck,cleft lip and

palate, malformations of the heartand abdominal organs, and flexed

fingers with extra digits.

-also profoundly mentally retarded.

This syndrome is due to the

presence of an extra chromosome

13 (trisomy 13).

For feeding problems, special

formulas, positions, and

techniques may be used. Tube

feeding or the placement of a

gastric tube (gastrostomy)may

be required. Structural

abnormalities such as cleft lip

and cleft palate can be

corrected through surgery.

Special diets, hearing aids, and

vision aids can be used to

mitigate the symptoms ofPatau syndrome. Physical

therapy, speech therapy, and

other types of developmental

therapy will help the child

reach his or her potential.

https://advbiogenetics.wikispaces

hromosomal+-+Patau+Syndrome

http://www.medterms.com/script

art.asp?articlekey=4794

http://medical-

dictionary.thefreedictionary.com/P

yndrome

http://en.wikipedia.org/wiki/Pata

ome

http://www.medterms.com/script/main/art.asp?articlekey=6537http://medical-dictionary.thefreedictionary.com/Gastrostomyhttps://advbiogenetics.wikispaces.com/Chromosomal+-+Patau+Syndromehttps://advbiogenetics.wikispaces.com/Chromosomal+-+Patau+Syndromehttp://www.medterms.com/script/main/art.asp?articlekey=4794http://www.medterms.com/script/main/art.asp?articlekey=4794http://medical-dictionary.thefreedictionary.com/Patau+syndromehttp://medical-dictionary.thefreedictionary.com/Patau+syndromehttp://medical-dictionary.thefreedictionary.com/Patau+syndromehttp://medical-dictionary.thefreedictionary.com/Patau+syndromehttp://medical-dictionary.thefreedictionary.com/Patau+syndromehttp://medical-dictionary.thefreedictionary.com/Patau+syndromehttp://www.medterms.com/script/main/art.asp?articlekey=4794http://www.medterms.com/script/main/art.asp?articlekey=4794https://advbiogenetics.wikispaces.com/Chromosomal+-+Patau+Syndromehttps://advbiogenetics.wikispaces.com/Chromosomal+-+Patau+Syndromehttp://medical-dictionary.thefreedictionary.com/Gastrostomyhttp://www.medterms.com/script/main/art.asp?articlekey=6537

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Congenital

Multiple

Anomalies

A very rare syndrome

characterized mainly by mental

retardation, growth failure, cleft lip,

cleft palate and various other

abnormalities.

-symptoms include mental

retardation, growth failure, cleft

lip , cleft palate, close set eyes,

retarded fetal growth, short stature,

underveleoped kidneys and testes

Causes include primagravidity,

oligohydraminos, abnormal

presentation, multiple

pregnancy and uterine

abnormality

www.rightdiagnosis.com/m/multiple_

tal_anomalies_mentalretardation_growre_and_cleft_lip_palate/intro.com

http://www.despardes.com/multiple

congenital-anomalies.htm

http://www.surgical-tutor.org.uk/defhome.htm?system/hnep/congenital.ht

Edwards

Syndrome

Trisomy 18 (Edwards syndrome)

results from the presence of an

extra copy of chromosome 18.

-leads to severe intellectual andphysical defects.

- Common features of trisomy 18

include a low birth weight; a small

jaw and mouth; an abnormallyshaped,small head;overlapping

fingers and clenched fists;

anddefects in the heart and other

The prognosis of trisomy 18 is

poor; half of those affected do

not live beyond the first week

of life and only 10% of infants

with this condition live beyond

the first year.

http://www.medicinenet.com/trisomyicle.htm

http://health.wikinut.com/img/1cbm3

wy8fu1/Edward-s-Syndrome

http://www.mun.ca/biology/scarr/Edyndrome.html

http://www.rightdiagnosis.com/m/multiple_congenital_anomalies_mentalretardation_growth_failure_and_cleft_lip_palate/intro.comhttp://www.rightdiagnosis.com/m/multiple_congenital_anomalies_mentalretardation_growth_failure_and_cleft_lip_palate/intro.comhttp://www.rightdiagnosis.com/m/multiple_congenital_anomalies_mentalretardation_growth_failure_and_cleft_lip_palate/intro.comhttp://www.despardes.com/multiple-congenital-anomalies.htmhttp://www.despardes.com/multiple-congenital-anomalies.htmhttp://www.medicinenet.com/script/main/art.asp?articlekey=1939http://www.medicinenet.com/script/main/art.asp?articlekey=2010http://www.medicinenet.com/trisomy_18/article.htmhttp://www.medicinenet.com/trisomy_18/article.htmhttp://health.wikinut.com/img/1cbm3q6ouuwy8fu1/Edward-s-Syndromehttp://health.wikinut.com/img/1cbm3q6ouuwy8fu1/Edward-s-Syndromehttp://health.wikinut.com/img/1cbm3q6ouuwy8fu1/Edward-s-Syndromehttp://health.wikinut.com/img/1cbm3q6ouuwy8fu1/Edward-s-Syndromehttp://www.medicinenet.com/trisomy_18/article.htmhttp://www.medicinenet.com/trisomy_18/article.htmhttp://www.medicinenet.com/script/main/art.asp?articlekey=2010http://www.medicinenet.com/script/main/art.asp?articlekey=1939http://www.despardes.com/multiple-congenital-anomalies.htmhttp://www.despardes.com/multiple-congenital-anomalies.htmhttp://www.rightdiagnosis.com/m/multiple_congenital_anomalies_mentalretardation_growth_failure_and_cleft_lip_palate/intro.comhttp://www.rightdiagnosis.com/m/multiple_congenital_anomalies_mentalretardation_growth_failure_and_cleft_lip_palate/intro.comhttp://www.rightdiagnosis.com/m/multiple_congenital_anomalies_mentalretardation_growth_failure_and_cleft_lip_palate/intro.com

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organs.

- Trisomy 18 occurs on average in 1

out of every 6,000 births.

- Up to 95% of fetuses with trisomy

18 die in the prenatal period (priorto delivery).

Down

Syndrome

-Down syndrome (also called

Trisomy 21) is a genetic disorder

that occurs in approximately 1 of

800 live births. It is the leading

cause of cognitive impairment.Down syndrome is associated

withmild to moderate learning

disabilities,developmental delays,

characteristic facial features, and

low muscle tone in early infancy.

-Many individuals with Down

syndrome also have heart

defects,leukemia,early-

onsetAlzheimer's disease,gastro-

intestinal problems, and other

health issues.

-People with the syndrome may

also have other health

problems. They may be born

with heart disease. They may

have dementia. They mayhave hearing problems and

problems with the intestines,

eyes, thyroid and skeleton.

- The chance of having a baby

with Down syndrome increases

as a woman gets older. Down

syndrome cannot be cured.

However, many people with

Down syndrome live productive

lives well into adulthood.

http://www.medicinenet.com/dow

rome/article.htm

http://www.nlm.nih.gov/medlinep

wnsyndrome.html

http://healthlineinfo.com/when-you

is-born-with-down-syndrome.html

http://www.medicinenet.com/script/main/art.asp?articlekey=38098http://www.medicinenet.com/script/main/art.asp?articlekey=38098http://www.medicinenet.com/script/main/art.asp?articlekey=404http://www.medicinenet.com/script/main/art.asp?articlekey=267http://www.medicinenet.com/down_syndrome/article.htmhttp://www.medicinenet.com/down_syndrome/article.htmhttp://www.nlm.nih.gov/medlineplus/downsyndrome.htmlhttp://www.nlm.nih.gov/medlineplus/downsyndrome.htmlhttp://www.nlm.nih.gov/medlineplus/downsyndrome.htmlhttp://www.nlm.nih.gov/medlineplus/downsyndrome.htmlhttp://www.medicinenet.com/down_syndrome/article.htmhttp://www.medicinenet.com/down_syndrome/article.htmhttp://www.medicinenet.com/script/main/art.asp?articlekey=267http://www.medicinenet.com/script/main/art.asp?articlekey=404http://www.medicinenet.com/script/main/art.asp?articlekey=38098http://www.medicinenet.com/script/main/art.asp?articlekey=38098

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Cats eye

Syndrome

- named after how it affects the

appearance of the eyes, is caused

by a genetic defect in

chromosome 22. There is a wide

range of symptoms associated with

the syndrome. Cat eye syndromeaffects both males and females,

and is estimated to occur in 1 in

74,000 individuals.

-symptoms include absence of

tissue from the colored part of one

or both eyes (iris coloboma), small

growths of skin (tags) or

depressions in the skin (pits) of the

outer ears,, an absence or

obstruction of the anus,congenital

heart defect,downward slanting

openings between the upper and

lower eyelids, defects of the urinary

tract or kidneys, short stature.

-Treatment of cat eye

syndrome focuses on the

symptoms the individual has.

Some children may need

surgery to repair birth defects in

the anus or heart. Lifeexpectancy is not significantly

reduced in those individuals

who do not have life-

threatening physical problems

(such as a severe heart

defect).

http://rarediseases.about.com/od/

osomedisorders/a/cateyesyndrom

http://www.rightdiagnosis.com/c/

_syndrome/treatments.htm

http://jmg.bmj.com/content/40/5

1.expansion

Schizoid,

mental

retardation

-Schizoid personality disorder is one

of a group of conditions called

"Cluster 'A' " or eccentric

personality disorders. People with

these disorders often appear odd

or peculiar. People with schizoid

personality disorder also tend to be

distant, detached, and indifferent

to social relationships. They

generally are loners who prefer

solitary activities and rarely express

-Other common traits of

people with this disorder

include the following:

-They do not desire or enjoy

close relationships, even with

family members.

-They choose solitary jobs and

activities.

-They take pleasure in few

activities, including sex.

-They have no close friends,

http://www.webmd.com/mental-

health/mental-health-schizoid-

personality-disorder

http://www.fitango.com/articles.p

1434

http://adam.about.net/encyclopedia/001114.htmhttp://adam.about.net/encyclopedia/001114.htmhttp://rarediseases.about.com/od/chromosomedisorders/a/cateyesyndrome.htmhttp://rarediseases.about.com/od/chromosomedisorders/a/cateyesyndrome.htmhttp://www.rightdiagnosis.com/c/cat_eye_syndrome/treatments.htmhttp://www.rightdiagnosis.com/c/cat_eye_syndrome/treatments.htmhttp://www.webmd.com/mental-health/mental-health-schizoid-personality-disorderhttp://www.webmd.com/mental-health/mental-health-schizoid-personality-disorderhttp://www.webmd.com/mental-health/mental-health-schizoid-personality-disorderhttp://www.webmd.com/mental-health/mental-health-schizoid-personality-disorderhttp://www.webmd.com/mental-health/mental-health-schizoid-personality-disorderhttp://www.webmd.com/mental-health/mental-health-schizoid-personality-disorderhttp://www.rightdiagnosis.com/c/cat_eye_syndrome/treatments.htmhttp://www.rightdiagnosis.com/c/cat_eye_syndrome/treatments.htmhttp://rarediseases.about.com/od/chromosomedisorders/a/cateyesyndrome.htmhttp://rarediseases.about.com/od/chromosomedisorders/a/cateyesyndrome.htmhttp://adam.about.net/encyclopedia/001114.htmhttp://adam.about.net/encyclopedia/001114.htm

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strong emotion. Although their

names sound alike and they might

have some similar symptoms,

schizoid personality disorder is not

the same thing asschizophrenia.

except first-degree relatives.

-They have difficulty relating to

others.

-They might daydream and/or

create vivid fantasies of

complex inner lives.

Monosomy 21

G-A rare chromosomal disorderwhere there is only one copy of

chromosome 21 instead of the

normal two leading to various

abnormalities.

-main symptoms are hypertonia,

micrognathia, microphthalmus,

imperforate anus, ambiguous

external genitalia, floating andmalopposed thumbs, overlying

fingers, right clubfoot and growth

retardation.

Other symptoms include:

Dysmorphic face

Asymmetric face

Small head

Small jaw

Prominent forehead

Low set ears

Malformed ears

Large pinnae

Down slanting space

between eyelids

Widely spaced eyes

Telecanthus

Anterior eye chamber

defects

Coloboma

Optic atrophy

Large nose

http://www.rightdiagnosis.com/c/

osome_21_monosomy/intro.htm

http://www.sciencedirect.com/sci

ticle/pii/S0378111912010748

http://link.springer.com/article/1

%2FBF00273344?LI=true

http://www.webmd.com/content/article/60/67143.htmhttp://www.rightdiagnosis.com/sym/face_deformity.htmhttp://www.rightdiagnosis.com/sym/small_head.htmhttp://www.rightdiagnosis.com/sym/jaw_symptoms.htmhttp://www.rightdiagnosis.com/sym/prominent_forehead.htmhttp://www.rightdiagnosis.com/sym/ear_symptoms.htmhttp://www.rightdiagnosis.com/sym/malformed_ears.htmhttp://www.rightdiagnosis.com/sym/down_slanting_space_between_eyelids.htmhttp://www.rightdiagnosis.com/sym/down_slanting_space_between_eyelids.htmhttp://www.rightdiagnosis.com/sym/down_slanting_space_between_eyelids.htmhttp://www.rightdiagnosis.com/sym/down_slanting_space_between_eyelids.htmhttp://www.rightdiagnosis.com/sym/eye_symptoms.htmhttp://www.rightdiagnosis.com/medical/telecanthus.htmhttp://www.rightdiagnosis.com/l/loose_anagene_syndrome/intro.htmhttp://www.rightdiagnosis.com/sym/optic_atrophy.htmhttp://www.rightdiagnosis.com/sym/large_nose.htmhttp://www.rightdiagnosis.com/c/chromosome_21_monosomy/intro.htmhttp://www.rightdiagnosis.com/c/chromosome_21_monosomy/intro.htmhttp://www.sciencedirect.com/science/article/pii/S0378111912010748http://www.sciencedirect.com/science/article/pii/S0378111912010748http://www.sciencedirect.com/science/article/pii/S0378111912010748http://www.sciencedirect.com/science/article/pii/S0378111912010748http://www.rightdiagnosis.com/c/chromosome_21_monosomy/intro.htmhttp://www.rightdiagnosis.com/c/chromosome_21_monosomy/intro.htmhttp://www.rightdiagnosis.com/sym/large_nose.htmhttp://www.rightdiagnosis.com/sym/optic_atrophy.htmhttp://www.rightdiagnosis.com/l/loose_anagene_syndrome/intro.htmhttp://www.rightdiagnosis.com/medical/telecanthus.htmhttp://www.rightdiagnosis.com/sym/eye_symptoms.htmhttp://www.rightdiagnosis.com/sym/down_slanting_space_between_eyelids.htmhttp://www.rightdiagnosis.com/sym/down_slanting_space_between_eyelids.htmhttp://www.rightdiagnosis.com/sym/malformed_ears.htmhttp://www.rightdiagnosis.com/sym/ear_symptoms.htmhttp://www.rightdiagnosis.com/sym/prominent_forehead.htmhttp://www.rightdiagnosis.com/sym/jaw_symptoms.htmhttp://www.rightdiagnosis.com/sym/small_head.htmhttp://www.rightdiagnosis.com/sym/face_deformity.htmhttp://www.webmd.com/content/article/60/67143.htm

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Broad nose

Long philtrum

Epicanthal folds

SEX CHROMOSOME COMPLEMENT

Turner

Syndrome

-a condition that affects only girls

and women, results from a missing

or incomplete sex chromosome.

Turner syndrome can cause a

variety of medical and

developmental problems,

including short stature, failure to

begin puberty, infertility, heart

defects and certain learning

disabilities.

-Turner syndrome may be

diagnosed during infancy or earlychildhood. But, sometimes

diagnosis is delayed in adolescent

girls or young women with mild

signs and symptoms of Turner

syndrome.

-This condition occurs in about

1 in 2,500 female births

worldwide, but is much more

common among pregnancies

that do not survive to term

(miscarriages and stillbirths).

-Researchers have not yet

determined whichgenes on

the Xchromosome are

responsible for most signs and

symptoms of Turner syndrome.

They have, however, identifiedonegene called SHOX that is

important for bone

development and growth.

Missing one copy of this gene

likely causes short stature and

skeletal abnormalities in

women with Turner syndrome.

http://www.mayoclinic.com/health/

syndrome/DS01017

http://www.medicinenet.com/turne

ome/article.htm

http://voices.yahoo.com/turner-syn

line-resources-235919.html

http://www.rightdiagnosis.com/sym/broad_nose.htmhttp://www.rightdiagnosis.com/sym/long_philtrum.htmhttp://www.rightdiagnosis.com/sym/epicanthal_folds.htmhttp://www.medicinenet.com/script/main/art.asp?articlekey=15391http://www.medicinenet.com/script/main/art.asp?articlekey=14018http://www.medicinenet.com/script/main/art.asp?articlekey=3560http://www.mayoclinic.com/health/turner-syndrome/DS01017http://www.mayoclinic.com/health/turner-syndrome/DS01017http://www.medicinenet.com/turner_syndrome/article.htmhttp://www.medicinenet.com/turner_syndrome/article.htmhttp://www.medicinenet.com/turner_syndrome/article.htmhttp://www.medicinenet.com/turner_syndrome/article.htmhttp://www.mayoclinic.com/health/turner-syndrome/DS01017http://www.mayoclinic.com/health/turner-syndrome/DS01017http://www.medicinenet.com/script/main/art.asp?articlekey=3560http://www.medicinenet.com/script/main/art.asp?articlekey=14018http://www.medicinenet.com/script/main/art.asp?articlekey=15391http://www.rightdiagnosis.com/sym/epicanthal_folds.htmhttp://www.rightdiagnosis.com/sym/long_philtrum.htmhttp://www.rightdiagnosis.com/sym/broad_nose.htm

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Triple X

Syndrome

-Triple X syndrome, also called

trisomy X or 47,XXX, is

characterized by the presence of

an additional X chromosome in

each of a female's cells. Although

females with this condition may betaller than average, this

chromosomal change typically

causes no unusual physical

features. Most females with triple X

syndrome have normal sexual

development and are able to

conceive children.

-Triple X syndrome is associated

with an increased risk of learning

disabilities and delayed

development of speech and

language skills. Delayed

development of motor skills (such

as sitting and walking), weak

muscle tone (hypotonia), and

behavioral and emotional

difficulties are also possible, but

these characteristics vary widely

among affected girls and women.

Seizures or kidney abnormalities

occur in about 10 percent of

affected females.

Most cases of triple X syndrome

are not inherited. The

chromosomal change usually

occurs as a random event

during the formation of

reproductive cells (eggs andsperm). An error in cell division

called nondisjunction can result

in reproductive cells with an

abnormal number of

chromosomes. For example, an

egg or sperm cell may gain an

extra copy of the X

chromosome as a result of

nondisjunction. If one of these

atypical reproductive cells

contributes to the genetic

makeup of a child, the child will

have an extra X chromosome

in each of the body's cells.

http://ghr.nlm.nih.gov/condition/tri

syndrome

http://anthro.palomar.edu/abnorm

mal_4.htm

http://ghr.nlm.nih.gov/condition/triple-x-syndromehttp://ghr.nlm.nih.gov/condition/triple-x-syndromehttp://ghr.nlm.nih.gov/condition/triple-x-syndromehttp://ghr.nlm.nih.gov/condition/triple-x-syndrome

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Tetra X

Syndrome

-a rarechromosomal

disordercaused by the presence of

fourX chromosomes instead of two

X chromosomes. This condition

occurs only in females, as there are

no Y chromosomes present.

-Tetrasomy X is achromosomal

aneuploidy,meaning it arises from

a defect inmeiosis.This can occur

when homologous X chromosomes

fail to separate in the formation of

the egg or sperm. Tetrasomy X is

usually suspected based on

symptoms present in the individual

and is confirmed viakaryotyping,

which reveals the extra X

chromosomes.

-Symptoms of tetrasomy X are

highly variable, ranging from

relatively mild to severe. Physically,

tetrasomy X patients tend to have

distinctive facial features such

asepicanthal folds,flat nasal

bridges, upslantingpalpebral

fissures,midfacehypoplasia,small

mouths,cleft or high arched

palates,delayed or absent teeth,

or enamel defects.

-The general prognosis for girls

with tetrasomy X is relatively

good. Due to the variability of

symptoms, some tetrasomy X

girls are able to function

normally, whereas others will

need medical attention

throughout their lives.

-Traditionally, treatment for

tetrasomy X has been

management of the symptoms

and support for learning. Most

girls are placed on estrogen

treatment to induce breast

development, arrest

longitudinal growth, and

stimulate bone formation to

prevent osteoporosis. Speech,

occupational, and physical

therapy may also be needed

depending on the severity of

the symptoms.

http://en.wikipedia.org/wiki/48,_XX

http://www.i-am-pregnant.com/Birt

defects/CHARGE-Syndrome

Klinefelters

Syndrome

-agenetic disorder in which there is

at least one extraX

-Principal effects

includehypogonadism and

http://en.wikipedia.org/wiki/Klinefe

drome

http://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Meiosishttp://en.wikipedia.org/wiki/Karyotypehttp://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/48,_XXXXhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/Hypogonadismhttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/48,_XXXXhttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Cleft_palatehttp://en.wikipedia.org/wiki/Hypoplasiahttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Palpebral_fissurehttp://en.wikipedia.org/wiki/Epicanthal_foldhttp://en.wikipedia.org/wiki/Karyotypehttp://en.wikipedia.org/wiki/Meiosishttp://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Chromosome_abnormalitieshttp://en.wikipedia.org/wiki/Chromosome_abnormalities

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(XXXY) chromosome to a standard human

malekaryotype,for a total of

47chromosomes rather than the 46

found in genetically normal

humans.

-This chromosome constitution

(karyotype) exists in roughly

between 1:500 to 1:1000 live male

births but many of these people

may not show symptoms. If the

physical traits associated with the

syndrome become apparent, they

normally appear after the onset of

puberty.

-As babies and children, XXY males

may have weaker muscles and

reduced strength. As they grow

older, they tend to become taller

than average. They may have less

muscle control and coordination

than other boys their age.

-Affected males are ofteninfertile,

or may have reduced fertility.

Advanced reproductive assistance

is sometimes possible.

reducedfertility.

-he genetic variation is

irreversible.Testosterone treatm

ent should begin atpuberty.

This treatment can normalize

body proportions and promote

development of normal

secondary sex characteristics

but does not treat

infertility,gynecomastia and

small testes.

Modified

Klinefelters

Syndrome(XXXXY)

- is an extremely

rare,aneuploidicsex

chromosomal abnormality; itsfrequency is approximately 1 out of

85,000 to 100,000 males.

-As its name indicates, a person

with the syndrome has oneY

chromosome and fourXchromosomes on the 23rd pair,

thus having 49 chromosomes

http://en.wikipedia.org/wiki/49,_XX

drome

http://www.ncbi.nlm.nih.gov/pmc/a

MC1935479/

http://en.wikipedia.org/wiki/X_chromosomehttp://en.wikipedia.org/wiki/Karyotypehttp://en.wikipedia.org/wiki/Chromosomehttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Fertilityhttp://en.wikipedia.org/wiki/Testosteronehttp://en.wikipedia.org/wiki/Pubertyhttp://en.wikipedia.org/wiki/Gynecomastiahttp://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/X_chromosomeshttp://en.wikipedia.org/wiki/X_chromosomeshttp://en.wikipedia.org/wiki/49,_XXXXY_syndromehttp://en.wikipedia.org/wiki/49,_XXXXY_syndromehttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1935479/http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1935479/http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1935479/http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1935479/http://en.wikipedia.org/wiki/49,_XXXXY_syndromehttp://en.wikipedia.org/wiki/49,_XXXXY_syndromehttp://en.wikipedia.org/wiki/X_chromosomeshttp://en.wikipedia.org/wiki/X_chromosomeshttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Y_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Gynecomastiahttp://en.wikipedia.org/wiki/Pubertyhttp://en.wikipedia.org/wiki/Testosteronehttp://en.wikipedia.org/wiki/Fertilityhttp://en.wikipedia.org/wiki/Infertilityhttp://en.wikipedia.org/wiki/Chromosomehttp://en.wikipedia.org/wiki/Karyotypehttp://en.wikipedia.org/wiki/X_chromosome

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Those with 49, XXXXY syndrome

tend to exhibit infantile secondary

sex characteristics with sterility in

adulthood and have some skeletal

anomalies. Skeletal anomalies

include:

-Genus valgus

-Pes cavus

-Fifth finger clinodactyl

The effects include

-cleft palate

-club feet

-short/broad neck

-low birth weight

-hyperextensible joints

-short stature

-narrow shoulders

-congenital heart defects

rather than the normal 46. As is

common

withaneuploidy disorders, 49,

XXXXY syndrome is often

accompanied bymental

retardation.It can be

considered a form ofKlinefelter

syndrome,[3]or a variant of it.

-It is genetic, but not hereditary.

This means that while the genes

of the parents cause the

syndrome, there is a small

chance of more than one child

having the syndrome. The

probability of inheriting the

disease is about 1%.

-The individuals with thissyndrome are males, but49,

XXXXX also exists with similar

characteristics as the female

version.

http://www.ncbi.nlm.nih.gov/pmc/a

MC1935479/?page=2

Supermale

Syndrome (XYY)

- is characterized by an extra copy

of the Y chromosome in each of a

male's cells. Although males with

this condition may be taller than

average, this chromosomal

change typically causes nounusual physical features. Most

males with 47,XYY syndrome have

-This condition occurs in about

1 in 1,000 newborn boys. Five to

10 boys with 47,XYY syndrome

are born in the United States

each day.

-Most cases of 47,XYY

syndrome are not inherited. The

http://ghr.nlm.nih.gov/condition/47

syndrome

http://en.wikipedia.org/wiki/XYY_sy

http://canadadebt.org/affiliates/15/syndrome-treatments

http://en.wikipedia.org/wiki/Aneuploidyhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Klinefelter_syndromehttp://en.wikipedia.org/wiki/Klinefelter_syndromehttp://en.wikipedia.org/wiki/49,_XXXXY_syndrome#cite_note-isbn0-7216-0187-1-3http://en.wikipedia.org/wiki/49,_XXXXY_syndrome#cite_note-isbn0-7216-0187-1-3http://en.wikipedia.org/wiki/49,_XXXXY_syndrome#cite_note-isbn0-7216-0187-1-3http://en.wikipedia.org/wiki/49,_XXXXXhttp://en.wikipedia.org/wiki/49,_XXXXXhttp://ghr.nlm.nih.gov/condition/47xyy-syndromehttp://ghr.nlm.nih.gov/condition/47xyy-syndromehttp://en.wikipedia.org/wiki/XYY_syndromehttp://en.wikipedia.org/wiki/XYY_syndromehttp://ghr.nlm.nih.gov/condition/47xyy-syndromehttp://ghr.nlm.nih.gov/condition/47xyy-syndromehttp://en.wikipedia.org/wiki/49,_XXXXXhttp://en.wikipedia.org/wiki/49,_XXXXXhttp://en.wikipedia.org/wiki/49,_XXXXY_syndrome#cite_note-isbn0-7216-0187-1-3http://en.wikipedia.org/wiki/Klinefelter_syndromehttp://en.wikipedia.org/wiki/Klinefelter_syndromehttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Aneuploidy

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normal sexual development and

are able to father children.

- is associated with an increased

risk of learning disabilities and

delayed development of speech

and language skills. Delayed

development of motor skills (such

as sitting and walking), weak

muscle tone (hypotonia), hand

tremors or other involuntary

movements (motor tics), and

behavioral and emotional

difficulties are also possible.

chromosomal change usually

occurs as a random event

during the formation of sperm

cells. An error in cell division

called nondisjunction can result

in sperm cells with an extra

copy of the Y chromosome. If

one of these atypical

reproductive cells contributes

to the genetic makeup of a

child, the child will have an

extra Y chromosome in each of

the body's cells.

Supermale

Syndrome

(XXYY)

-is asex chromosome anomaly in

which males have an extra X and Y

chromosome. Human cells usuallycontain two sex chromosomes,

one from the mother and one from

Manifestations:

-development delays-speech impairment

-behavior outburst and mood

http://en.wikipedia.org/wiki/XXYY_s

e

http://www.pathguy.com/xyy.htm

http://en.wikipedia.org/wiki/Sex_chromosomehttp://en.wikipedia.org/wiki/XXYY_syndromehttp://en.wikipedia.org/wiki/XXYY_syndromehttp://en.wikipedia.org/wiki/XXYY_syndromehttp://en.wikipedia.org/wiki/XXYY_syndromehttp://en.wikipedia.org/wiki/Sex_chromosome

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the father.

-Usually, females have two X

chromosomes (XX) and males

have one X and one Y

chromosome (XY). The

appearance of at least one Y

chromosome with a properly

functioningSRYgene makes a

male. Therefore, XXYY only affects

males. Males affected with XXYY

syndrome have 48 chromosomes

instead of the typical 46. This is why

XXYY syndrome is sometimes

written as 48, XXYY syndrome.

-It is estimated that XXYY affects

one in every 18,00040,000 male

births.

swings

-learning disabilities

-intellectual impairment

-ADHD symptoms

-tall

-scoliosis

-clinodactyly

-low muscle tone

-flat feet

-sterility

-delayed sexual development

-undesceneded testes

- low testosterone

-Akaryotype is done to

diagnose XXYY syndrome.

Treatment consists of

medications, behavioral

therapies and intensivecommunity support

Mosaicism

(Masculinized

Turner;s

Syndrome

X0/XY)

-is characterized b y a unilateral

testis, usually intra-abdominal, a

streak gonad on the contralateral

side, and persistent Mullerian

structures.

-The external genitalia are always

masculinized to some extent, on

occasion achieveing a normal

male phenotype: the somatic signsof Turner's syndrome are frequently

present. These patients are always

Other signs and symptoms:

- phallus was largely buried by

the labia majora

-shortness of stature

-low hair-line

-shield-like chest

-widely-spaced nipples

- pigmented naevi

-cubitus valgus- abnormal angle of carpal

bones

http://pediatrics.aappublications.org

t/52/5/725.abstract

http://www.ncbi.nlm.nih.gov/pmc/a

MC1811523/?page=2

http://www.sonoworld.com/fetus/p

x?id=2577

http://en.wikipedia.org/wiki/SRYhttp://en.wikipedia.org/wiki/Karyotypehttp://pediatrics.aappublications.org/content/52/5/725.abstracthttp://pediatrics.aappublications.org/content/52/5/725.abstracthttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1811523/?page=2http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1811523/?page=2http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1811523/?page=2http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1811523/?page=2http://pediatrics.aappublications.org/content/52/5/725.abstracthttp://pediatrics.aappublications.org/content/52/5/725.abstracthttp://en.wikipedia.org/wiki/Karyotypehttp://en.wikipedia.org/wiki/SRY

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chromatin-negative, and appear

to represent the commonest

expression of the mosaicism of XO

and XY cells, probably resulting

from a cytogenetic era very early

in embryogenesis.

-Patients with Turner's syndrome

who are slightly masculinized

because of "hilus cells" in their

streak gonads appear on the one

hand to represent a clinical and

cytogenetic stage intermediate

between MGD and XO Turner's

syndrome; while on the other,

certain male

pseudohermaphrodites with

bilateral dysgenetic testes are

probably intermediate betweenMGD and the normal XY male.

Testicular androgenic function

appears to be quantitatively and

qualitatively normal at puberty in

MGD, despite complete lack of

germ-cell proliferation.

XX/XY

Mosaicism

(chimerism)

-this kind of condition, where there

is more than one set of cell lines

with different sets of chromosomes

making up the body is known as

chimerism, with two differentpopulations of cells, which are

genetically distinct and originate in

The natural incidence of this

genetic disorder is still

unknown.0

http://medind.nic.in/jae/t06/i1/jaet

pdf

http://www.ncbi.nlm.nih.gov/pmc/a

MC1706215/?page=2

http://medind.nic.in/jae/t06/i1/jaet06i1p24.pdfhttp://medind.nic.in/jae/t06/i1/jaet06i1p24.pdfhttp://medind.nic.in/jae/t06/i1/jaet06i1p24.pdfhttp://medind.nic.in/jae/t06/i1/jaet06i1p24.pdf

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different zygotes.

-Cases of true 46,XX/46,XY

chimerism usually ascertained in

early childhood during

investigation of the abnormal

appearance of external genitalia.

-It is known to have various

presentations such as ambiguous

genitalia, hypospadias,

gynaecomastia, and inguinal

hernia, and is responsible for about

13% cases of true hermaphroditism.

Y0

Mosaicism

-Cytogenetically, the syndrome is

characterized by sex chromosome

monosomy (45,X), which is present

in 50-60% of the cases. The other

cases present mosaicism, with a45,X cell line accompanied by one

or more other cell lines with a

complete or structurally abnormal

X or Y chromosome. The presence

of Y-chromosome material in

patients with dysgenetic gonads

increases the risk of gonadal

tumors, especially

gonadoblastoma.

-The greatest concern is the high

risk of developinggonadoblastoma or other tumors

and virilization during puberty if

-Present in 1:2000 newborns

with female phenotype

http://www.ncbi.nlm.nih.gov/pubm

2293

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chromosome Y-specific sequences

are present. The role of the Y

chromosome in human

oncogenesis is still controversial.

Even though gonadoblastoma is a

benign tumor, it can undergo

transformation into invasive

dysgerminoma in 60% of the cases,

and also into other, malignant

forms of germ cell tumors.

TRANSLOCATIONS

Cri du chat -Cri du chat syndrome is a group of

symptoms that result from missing a

piece ofchromosome number 5.

The syndromes name is based on

the infants cry, which is high-pitched and sounds like a cat

-People who have cri-du-chat

have very distinctive features. They

may have a small head

(microcephaly), an unusually

round face, a small chin, widely set

eyes, folds of skin over their eyes,

and a small bridge of the nose.

-Several problems occur inside the

body, as well. A small number of

children have heart defects,

muscular or skeletal problems,

hearing or sight problems, or poor

Cri-du-chat syndrome occurs in

an estimated 1 in 20,000 to

50,000 newborns. This condition

is found in people of all ethnic

backgrounds.

http://www.nlm.nih.gov/medlin

ency/article/001593.htm

http://learn.genetics.utah.edu

nt/disorders/whataregd/cdc/

http://www.nlm.nih.gov/medlineplus/ency/article/002327.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/001593.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/001593.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/001593.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/001593.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/002327.htm

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muscle tone. As they grow, people

with cri-du-chat usually have

difficulty walking and talking

correctly. They may have behavior

problems (such as hyperactivity or

aggression), and severe mental

retardation.

Philadelphia

Chromosome

(Leukemia)

The Philadelphia chromosome is a

chromosome abnormality that

causes chronic

myeloid leukemia (CML).

Abbreviated as the Ph

chromosome.

The Ph chromosome is an

abnormally short chromosome 22

that is one of the two

chromosomes involved in atranslocation (an exchange of

material) with chromosome 9. This

translocation takes place in a

single bone marrow cell and,

through the process of clonal

expansion (the production of many

cells from this one mutant cell), it

gives rise to the leukemia.

The presence of this

translocation is a highly

sensitive test for CML, since 95%

of people with CML have this

abnormality (the remainder

have either a cryptic

translocation that is invisible on

G-banded chromosome

preparations, or a variant

translocation involving anotherchromosome or chromosomes

as well as the long arm of

chromosomes 9 and 22).

However, the presence of the

Philadelphia (Ph) chromosome

is not sufficiently specific to

diagnose CML, since it is also

found in acute lymphoblastic

leukemia (ALL, 2530% in adult

and 210% in pediatric cases)

and occasionally in acute

myelogenous leukemia (AML).

Symptoms of Myeloid, Leukemi

Philadelphia Positive. Retrieved

Right Diagnosis from HealthGra

http://www.rightdiagnosis.com

emia_myeloid_philadelphia_po

symptoms.htm#symptom_list

http://cml-and-

me.com/2011/08/22/philadelpchromosome/

http://www.rightdiagnosis.com/l/leukemia_myeloid_philadelphia_positive/symptoms.htm#symptom_listhttp://www.rightdiagnosis.com/l/leukemia_myeloid_philadelphia_positive/symptoms.htm#symptom_listhttp://www.rightdiagnosis.com/l/leukemia_myeloid_philadelphia_positive/symptoms.htm#symptom_listhttp://www.rightdiagnosis.com/l/leukemia_myeloid_philadelphia_positive/symptoms.htm#symptom_listhttp://www.rightdiagnosis.com/l/leukemia_myeloid_philadelphia_positive/symptoms.htm#symptom_listhttp://www.rightdiagnosis.com/l/leukemia_myeloid_philadelphia_positive/symptoms.htm#symptom_list

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Repeated

Spontaneous

Abortions

Miscarriage

The spontaneous loss of pregnancy

prior to the 20th gestational week

of pregnancy.

A variety of factors underlie the

occurrence of miscarriage.

These include genetic,

endocrinologic

(hormonal), anatomic,

immunologic and

microbiologic variations. Weare slowly coming to recognize

that no miscarriage can be

considered normal. All

miscarriages are the result of a

pathophysiologic reproductive

event.

http://cml-and-

me.com/2011/08/22/philadelphia-chrom

Deletion of the short arm of

chromosome 18 has similarity of

clinical features to those of the cri-

du-chat syndrome or B1 deletion

syndrome

Short stature; mental

retardation; low-set ears;

dysphagia; moon face;

oliguria; arhinencephaly;

microcephaly; congenitalalopecia; flat bridge of nose;

pyramidal tract signs; weakness

and focal dystonia of the lower

extremities.

http://telemedicine.orbis.org/b

ume_page.asp?cid=1-2896-525

5378

A very rare genetic disorder where

a portion of chromosome Yin long

arm is missing resulting in various

abnormalities

Upslanting space between

eyelids

Small testes

Short statureSmall jaw

High arched palate

http://www.rightdiagnosis.com

tial_deletion_of_y/intro.htm

http://www.rightdiagnosis.com/sym/small_testicle.htmhttp://www.rightdiagnosis.com/sym/short_stature.htmhttp://www.rightdiagnosis.com/sym/jaw_symptoms.htmhttp://www.rightdiagnosis.com/sym/high_arched_palate.htmhttp://www.rightdiagnosis.com/sym/high_arched_palate.htmhttp://www.rightdiagnosis.com/sym/jaw_symptoms.htmhttp://www.rightdiagnosis.com/sym/short_stature.htmhttp://www.rightdiagnosis.com/sym/small_testicle.htm

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