The Prader-Willi syndrome with a 15/3 translocation.

Journal of medical genetics ·Vol. 16 ·No. 3 ·1979-06-00 ·Pages 234-5

Kucerová M, Straková M, Polívková Z

Abstract

A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.

MeSH Terms

Child, Preschool Chromosomes, Human, 1-3 Chromosomes, Human, 13-15 Humans Male Prader-Willi Syndrome/genetics Translocation, Genetic

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Kucerová M

Straková M

Polívková Z

References (5)

5 references, click to expand

[Chromosomal translocation in a mentally deficient child with cryptorchidism].
Acta Paediatr. 1963 Mar;52:177-82 PMID: 14041555
Do the Giemsa-banding patterns of chromosomes change during embryonic development?
Exp Cell Res. 1972 Nov;75(1):268-71 PMID: 4117920
Forme fruste of the Prader-Willi syndrome (HHHO) and balanced D-E translocation.
Helv Paediatr Acta. 1968 Apr;23(2):128-35 PMID: 4387003
The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.
J Med Genet. 1976 Apr;13(2):152-7 PMID: 933113
Pathological observations on a male patient with D-ring chromosome.
J Ment Defic Res. 1971 Sep;15(3):207-23 PMID: 5098078

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

Published

1979-06-00

Pages

234-5

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1012701

Subset

External Links

PubMed source PMC Full Text View journal details

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The Prader-Willi syndrome with a 15/3 translocation.

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