| Pathology: chromosome abnormalities (Q90-Q99, 758) |
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| Autosomal trisomies | Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16 |
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| Autosomal monosomies/deletions | Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15),
Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22) |
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| X/Y linked | Monosomy: Turner syndrome (XO)
Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY,
Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY |
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| Translocations | Philadelphia chromosome, Burkitt's lymphoma |
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| Other | Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis) |
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