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Mental retardation and congenital malformations associated with a ring chromosome 9

✍ Scribed by S. Nakajima; M. Yanagisawa; S. Kamoshita; Y. Nakagome

Publisher
Springer
Year
1976
Tongue
English
Weight
341 KB
Volume
32
Category
Article
ISSN
0340-6717

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✦ Synopsis

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 reported cases of r(9) can be divided 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.

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