Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.

Human genetics ·Vol. 47 ·No. 2 ·1979-03-12 ·Pages 213-6

Fryns JP, Van den Berghe H

Abstract

A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the chromosome(s) 22 in this woman.

MeSH Terms

Adult Child Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 21-22 and Y Female Humans Intellectual Disability/genetics Karyotyping Male Mosaicism Muscle Hypotonia/genetics Phenotype Syndrome Translocation, Genetic

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Fryns J P

Van den Berghe H

References (4)

4 references, click to expand

Reexamination of a family with a t(13q14q) and a ring D(13) child.
Ann Genet. 1973 Sep;16(3):199-202 PMID: 4127869
Monozygotic twins with ring chromosome 22.
J Med Genet. 1973 Mar;10(1):85-9 PMID: 4697858
[The r(22) syndrome, Apropos of 4 new cases].
Ann Genet. 1976 Jun;19(2):111 PMID: 822770
Phenotypic correlations in patients with ring chromosome 22.
Clin Genet. 1977 Oct;12(4):239-49 PMID: 912941

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00273205

Published

1979-03-12

Pages

213-6

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00273205 View journal details

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Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.

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