A 46,XY,r(9) (p24q34) complement was observed in a 35-month-old boy with multiple congenital anomalies. The main clinical features included intrauterine growth retardation, dwarfism, microcephaly, peculiar face, undescended testes, seizures and severe psychomotor retardation. It appears that 4 repor
Mental retardation and congenital malformations associated with a ring chromosome 6
β Scribed by K. Fried; M. Rosenblatt; G. Mundel; R. Krikler
- Book ID
- 119838209
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 359 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0009-9163
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π SIMILAR VOLUMES
16 (41%) out of 39 individuals referred by physicians because of sexual anomalies showed abnormal karyotypes; the corresponding figure for those investigated due to suspected autosomal aberrations was 37 out of 104 (36%). A special survey was also conducted among 51 mentally defective children with
A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also
A ring chromosome 9 is reported in a 12-year-old, moderately mentally retarded boy. As in other ring chromosome 9 patients, the clinical stigmata are nonspecific and their expressivity is mild. The finding of two normal cells of a total of 121 cells examined favors the hypothesis of a postzygotic, m