13q- syndrome. Family study.

Archives of disease in childhood ·Vol. 52 ·No. 12 ·1977-12-00 ·Pages 972-4

Carmichael A, Addy DP, Shortland-Webb WR, Cameron AH, Davies IC

Abstract

A patient is described who had a deletion involving the long arm of chromosome number 13. The mother and 4 of 7 living sibs showed a balanced translocation from the long arm of a number 13 chromosome to the long arm of a number 3 chromosome. We stress the importance of investigating the families of children with chromosomal defects.

MeSH Terms

Abnormalities, Multiple/genetics Adolescent Adult Brain/abnormalities Child Child, Preschool Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, 13-15 Female Humans Infant Male Middle Aged Syndrome Translocation, Genetic

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Carmichael A

Addy D P

Shortland-Webb W R

Cameron A H

Davies I C

References (6)

6 references, click to expand

[Partial 13 trisomy by maternal 46, XX, t (3; 13) (p 26; q 21) translocation].
Pediatrie. 1974 Oct-Nov;29(7):725-9 PMID: 4456285
New chromosomal syndromes.
Am J Dis Child. 1975 Apr;129(4):515-29 PMID: 124130
D13 ring chromosome syndrome.
Arch Dis Child. 1976 Jun;51(6):449-53 PMID: 942238
Partial monosomy 13 as the result of a balanced translocation 3/13 pat.
Humangenetik. 1975 Jun 19;28(2):93-6 PMID: 1150275
The 13q- deletion syndrome.
J Med Genet. 1971 Sep;8(3):351-7 PMID: 5097142
The 13q-deletion syndrome.
Am J Hum Genet. 1969 Sep;21(5):499-512 PMID: 5347076

Article Info

Journal

Archives of disease in childhood

Abbr.

Arch Dis Child

ISSN

1468-2044

DOI

10.1136/adc.52.12.972

Published

1977-12-00

Pages

972-4

Language

English

Region

England

NLM ID

0372434

PMCID

PMC1545016

Subset

External Links

PubMed source DOI: 10.1136/adc.52.12.972 PMC Full Text View journal details

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