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PMID: 853317 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Journal of medical genetics ·Vol. 14 ·No. 2 ·1977-04-00 ·Pages 114-9

Kim HJ, Hsu LY, Goldsmith LC, Strauss L, Hirschhorn K

Abstract

A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.

MeSH Terms

Abnormalities, Multiple/genetics Chromosome Aberrations Chromosome Mapping Chromosomes, Human, 13-15 Chromosomes, Human, 21-22 and Y Humans Infant, Newborn Leukocytes/ultrastructure Male Phenotype Translocation, Genetic Trisomy

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Kim H J

Hsu L Y

Goldsmith L C

Strauss L

Hirschhorn K

References (18)

18 references, click to expand

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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.14.2.114

Published

1977-04-00

Pages

114-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013525

Subset

External Links

PubMed source DOI: 10.1136/jmg.14.2.114 PMC Full Text View journal details

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Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

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