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Literature DB >> 939548

Mental retardation and congenital malformations associated with a ring chromosome 9.

S Nakajima, M Yanagisawa, S Kamoshita, Y Nakagome.

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.

Entities: Disease Species

Mesh：

Year: 1976 PMID： 939548 DOI： 10.1007/bf00295818

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

11 in total

Mental retardation and congenital malformations associated with a ring chromosome 9.

1. Irregular phenotypic expression of ring chromosomes.

2. [A case of annular chromosome 9. Indentification by controlled denaturation].

3. Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.

4. [Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6].

5. A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl.

6. Points of exchange in a human no. 5 ring chromosome.

7. [A case of ring chromosome E 17: 46, XX, r(17) (p13 yields q25) (author's transl)].

8. Developmental abnormalities associated with a ring chromosome 6.

9. Comparative behavior of ring chromosomes.

10. Ring chromosome 7 with variable phenotypic expression.

1. A case of 9p- syndrome.

2. Ring chromosome 9. 46,XY,r(9) in a male with ambiguous external genitalia.

3. Ring chromosome 10 associated with multiple congenital malformations.

4. Ring 10 chromosome: 46,XX,r10(p15q26).

5. Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.

6. A ring chromosome 9 in an infant with malformations.

Review 7. Distribution of break points in human structural rearrangements.

8. Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9.