Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence. Chromosomal polymorphisms detected include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the short arms of all acrocentric chromosomes. Here, we report a girl wit...

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Bibliographic Details
Published in:Indian journal of human genetics 2014-01, Vol.20 (1), p.89-91
Main Authors: Natiq, Abdelhafid, Elalaoui, Siham Chafai, Liehr, Thomas, Amzazi, Saïd, Sefiani, Abdelaziz
Format: Article
Language:English
Subjects:
Care and treatment
Case Report
Case studies
Chromosome abnormalities
Chromosomes
Cytogenetics
Diagnosis
Patient outcomes
Risk factors
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Summary:Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence. Chromosomal polymorphisms detected include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the short arms of all acrocentric chromosomes. Here, we report a girl with Down-syndrome such as facies and tremendously enlarged short arm of a chromosome 22. Fluorescence in situ hybridization (FISH) with a probe specific for all acrocentric short arms revealed that the enlargement p arms of the chromosome 22 in question contained exclusively heterochromatic material derived from an acrocentric short arm. Parental studies identified a maternal origin of this heteromorphism. Cryptic trisomy 21 of the Down-syndrome critical region was excluded by a corresponding FISH-probe. Here, we report, to the best of our knowledge, largest ever seen chromosome 22 short arm, being ~×1.5 larger than the normal long arm.
ISSN:0971-6866
1998-362X
DOI:10.4103/0971-6866.132767