46,XX/46,XX,r(15) mosaiciam: report of a case.

Journal of medical genetics ·Vol. 14 ·No. 1 ·1977-02-00 ·Pages 63-5

Pfeiffer RA, Dhadial R, Lenz W

Abstract

Mosaicism of cells with a normal karyotype or with a ring chromosome no. 15 was found in a girl with hypoplasia of the thumbs, club feet, mental retardation, and short stature, which seems to be a feature of this chromosomal aberration.

MeSH Terms

Abnormalities, Multiple Child, Preschool Chromosomes, Human, 13-15 Female Humans Intellectual Disability/genetics Mosaicism

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Pfeiffer R A

Dhadial R

Lenz W

References (3)

3 references, click to expand

Ring chromosome 15:r(15). Identification by R banding.
Humangenetik. 1975;27(3):259-62 PMID: 50276
Ring chromosome D (13) associated with multiple congenital malformations.
Ann Genet. 1973 Sep;16(3):157-66 PMID: 4543204
[Ring 15 chromosome: r(15). Identification by controlled denaturation].
Ann Genet. 1972 Dec;15(4):267-70 PMID: 4539486

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.14.1.63

Published

1977-02-00

Pages

63-5

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013510

Subset

External Links

PubMed source DOI: 10.1136/jmg.14.1.63 PMC Full Text View journal details

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46,XX/46,XX,r(15) mosaiciam: report of a case.

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