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Case Reports
. 1976 Jun 29;32(3):289-93.
doi: 10.1007/BF00295818.

Mental retardation and congenital malformations associated with a ring chromosome 9

S Nakajima, M Yanagisawa, S Kamoshita, Y Nakagome
Case Reports

Mental retardation and congenital malformations associated with a ring chromosome 9

S Nakajima et al. Hum Genet. .

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 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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References

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