Deletion of the short arm of chromosome 20
β Scribed by P. Kiss; Magda Osztovics
- Book ID
- 115089771
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 133 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0009-9163
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A 46, XX, del(20) (p11) karyotype (Paris Conference, 1971) was identified in an 11-month-old French-Canadian girl with a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation. Both parents had normal phenotype and karyotype.
Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of