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
Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9
β Scribed by J. P. Fryns; A. Lambrechts; H. Jansseune; H. Berghe
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 224 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
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, mitotic origin of the ring chromosome formation.
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