Mental retardation and congenital malformations associated with a ring chromosome 9
- 1 January 1976
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 32 (3), 289-293
- https://doi.org/10.1007/bf00295818
Abstract
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 retadation. It appears that 4 reported cases of r(9) can be devided into two groups. Three of them, including the present case, share clinical features with those of cases with 9p-. On the other hand, one case showed a different combination of malformations.Keywords
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