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

Human genetics ·Vol. 32 ·No. 3 ·1976-06-29 ·Pages 289-93

Nakajima S, Yanagisawa M, Kamoshita S, Nakagome Y

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.

MeSH Terms

Abnormalities, Multiple/genetics Child, Preschool Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 6-12 and X Cytogenetics Humans Intellectual Disability/genetics Male

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Nakajima S

Yanagisawa M

Kamoshita S

Nakagome Y

References (11)

11 references, click to expand

Points of exchange in a human no. 5 ring chromosome.
Cytogenet Cell Genet. 1973;12(1):35-9 PMID: 4122450
Comparative behavior of ring chromosomes.
Am J Hum Genet. 1970 May;22(3):304-18 PMID: 5445002
Developmental abnormalities associated with a ring chromosome 6.
J Med Genet. 1973 Sep;10(3):299-303 PMID: 4774541
Irregular phenotypic expression of ring chromosomes.
Humangenetik. 1975;26(3):193-8 PMID: 1132877
Ring chromosome 7 with variable phenotypic expression.
Cytogenet Cell Genet. 1973;12(1):40-8 PMID: 4145271
Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.
Ann Genet. 1973 Mar;16(1):17-22 PMID: 4541805
[Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6].
Ann Genet. 1974 Mar;17(1):29-35 PMID: 4546343
[A case of annular chromosome 9. Indentification by controlled denaturation].
Ann Genet. 1974 Sep;17(3):175-80 PMID: 4548818
[A case of ring chromosome E 17: 46, XX, r(17) (p13 yields q25) (author's transl)].
Jinrui Idengaku Zasshi. 1974 Dec;19(3):235-42 PMID: 4478010
A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl.
Clin Genet. 1973;4(5):434-41 PMID: 4127395
Mental retardation and congenital malformations associated with a ring chromosome 6.
Clin Genet. 1975 Mar;7(3):192-6 PMID: 1139788

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00295818

Published

1976-06-29

Pages

289-93

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00295818 View journal details

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

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