chromosomal aberrations

Download Chromosomal aberrations

If you can't read please download the document

Post on 19-May-2015

1.089 views

Category:

Documents

8 download

Embed Size (px)

TRANSCRIPT

  • 1. CHROMOSOMALABERRATIONS

2. disruptions in thenormal chromosomalcontent of a cell andare a major cause ofgenetic conditions inhumans 3. Cri du chat 4. Deletion of part of the short arm ofchromosome 5. "Cri du chat" means"cry of the cat" in French; thecondition was so-named becauseaffected babies make high-pitchedcries that sound like those of a cat.Affected individuals have wide-seteyes, a small head and jaw,moderate to severe mental healthissues, and are very short. 5. DOWN SYNDROME 6. Extra copy of chromosome21 (trisomy 21).Characteristics includedecreased muscle tone,stockier build, asymmetricalskull, slanting eyes and mildto moderate developmentaldisability 7. Edwards syndrome 8. extra presence of trisomy-18, thesecond-most-common trisomy.Symptoms include motorretardation, developmentaldisability and numerouscongenital anomalies causingserious health problems. Theyhave characteristic clenched handsand overlapping fingers. 9. Jacobsen syndrome 10. terminal 11q deletiondisorder. Those affectedhave normal intelligenceor mild developmentaldisability, with poorexpressive language skills. 11. Klinefelters syndrome 12. usually sterile, and tend tobe taller and have longerarms and legs than theirpeers. Boys with thesyndrome are often shy andquiet, and have a higherincidence of speechdelay and dyslexia. 13. Patau syndrome 14. Triple x syndrome 15. XXX girls tend to be talland thin and have ahigher incidence ofdyslexia 16. XYY SYNDROME 17. Females with Turnersyndrome often have a shortstature, low hairline,abnormal eye features andbone development and a"caved-in" appearance tothe chest