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Mental retardation and congenital malformations associated with a ring chromosome 9

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Summary

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.

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Authors and Affiliations

  1. Department of Pediatrics, Jichi Medical School, Minamikawachi, Tochigi-ken, Japan

    S. Nakajima, M. Yanagisawa & S. Kamoshita

  2. Department of Human Genetics, National Institute of Genetics, Mishima, Shizuoka-ken, Japan

    Y. Nakagome

Authors
  1. S. Nakajima
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  2. M. Yanagisawa
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  3. S. Kamoshita
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  4. Y. Nakagome
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Supported in part by a grant (No. 057364) from the Ministry of Education, Japan and a grant from the Ministry of Health and Welfare, Japan.

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Nakajima, S., Yanagisawa, M., Kamoshita, S. et al. Mental retardation and congenital malformations associated with a ring chromosome 9. Hum Genet 32, 289–293 (1976). https://doi.org/10.1007/BF00295818

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  • DOI: https://doi.org/10.1007/BF00295818

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