practical 6 07
TRANSCRIPT
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Practical 6
Numerical chromosomalabnormalities
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Task A• A fetus with multiple
malformations including
syndactyly had been
cytogenetically
examined
• Determine and describe
the chromosomal
finding.
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Triploidy 69,XXY
Lethal during prenatal development.
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Partial hydatidiform mole
Mass of trophoblastic tissue
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Mosaic form of triploidy
69,XXY/46,XY
69,XXX/46,XX
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Numerical chromosomal abnormalities
• Polyploidy– Triploidy 3n– Tetraploidy 4n
• Aneuploidy– in somatic cells
• Trisomy 2n+1• Monosomy 2n – 1• Tetrasomy 2n + 2
– in gametes• Nullisomy n – 1• Disomy n + 1
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Normal karyotype
Triploidy
Trisomy
Monosomy
Aneuploidy
Polyploidy
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Task 1
• Determine the chromosomal finding.
• Karyotype 1
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Trisomy 21
47,XX,+21
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47,XY,+21
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Down syndrome
47,XX,+21
47,XY,+21
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Down syndrome
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Down syndrome
Epicanthic fold Palm or „simian“ crease
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Phenotypic features of the Down syndrome
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Trisomy 21 in the fetus
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Cause of chromosomal aneuploidies – non-disjunction
• Meiotic
• Mitotic
leads to mosaic
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Task 3
• Determine following karyotypes and
describe corresponding phenotypic
features
• See karyotypes 2, 3, 4, 5, 6, 7
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Karyotype 2
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Trisomy of chromosome 13
47,XX,+13
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Patau syndrome
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Patau syndrome
polydactyly
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Patau syndrome – cyclopia
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Karyotype 3
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Trisomy of chromosome 18
47,XY,+18
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Edwards syndrome
Trisomy 18
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Edwards syndrome
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Edwards syndrome
„rocker bottom feet“
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A fetus with trisomy 18
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Fetus with trisomy 18
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Karyotype 4
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Monosomy of chromosome X
45,X
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Turner syndrome(Ulrich-Turner syndrome)
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Turner syndrome – streak gonads
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Phenotypic features of the Turner syndrome
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Monosomy X in the fetus
• Very frequent abnormality in
miscarriages
• It is possible that full
monosomy is lethal during
prenatal development
• Only mosaic forms can
survive?
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Description of the mosaic form of the Turner syndrome
• 45,X [40] / 46,XX [35]
• 40 + 35 = 75 cells had been examined
• In 40 cells monosomy X was identified.
• 35 cells had normal karyotype.
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Karyotype 5
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47,XXY
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Klinefelter syndrome
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Phenotypic features of the Klinefelter syndrome
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Klinefelter syndrome phenotype
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Karyotype 6
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Superfemale – 47,XXX
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Karyotype 7
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Supermale – 47,XYY
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Barr body examination
Epithelial cells from the buccal smear
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Barr body
• = sex-chromatin
• Inactivated X chromosome
• Female XX
– 1 Barr body
• Male XY
– no Barr hody
• Klinefelter syndrome XXY
– 1 Barr body
Murray L. Barr
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Task 4
• Estimate possible constitution of
sex chromosomes in an
individual with two Barr bodies.
Possible chromosomal findings:
Superfemale – 47,XXX
Rare form of the Klinefelter syndrome – 48,XXXY
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Happy Easter!
Feliz Páscoa!
Frohe Ostern!
Radostné Velikonoce!
Prospera Pascha sit!