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PMID: 965953 Published · ppublish fre Case Reports English Abstract Journal Article

[A small supernumerary metacentric chromosome: interprétation test (author's transl)].

Petit chromosome métacentrique surnuméraire: essai d'interpretation

Journal de genetique humaine ·Vol. 24 ·No. 2 ·1976-06-00 ·Pages 81-93

Ayraud N, Noel B, Llyod M, Letourneau J, Martinon J

Abstract

The report relates to a new case of small supernumerary metacentric chromosome. The phenotypical variability of previously published cases suggests that this chromosomal anomaly may arise from multiple origins. Our study shows the difficulties of a cytogenetic interpretation and the limits of the semeiologic arguments. It is, however, possible to hypothesize an 18 partial trisomy.

MeSH Terms

Acridines Azure Stains Bromodeoxyuridine Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 16-18 Chromosomes, Human, 19-20 Female Humans Hypertelorism/genetics Infant Infant, Newborn Karyotyping Microcephaly/genetics Micrognathism/genetics Phenotype Psychomotor Disorders/genetics Trisomy

Chemicals

Acridines Azure Stains Bromodeoxyuridine

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Ayraud N

Noel B

Llyod M

Letourneau J

Martinon J

Article Info

Journal

Journal de genetique humaine

Abbr.

J Genet Hum

ISSN

0021-7743

Published

1976-06-00

Pages

81-93

Language

fre

Region

Switzerland

NLM ID

2983308R

Subset

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[A small supernumerary metacentric chromosome: interprétation test (author's transl)].

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