Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies.
Indian J Hum Genet
;
2014 Jan-Mar ;20 (1): 89-91
Article
in English
| IMSEAR
| ID: sea-156642
ABSTRACT
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Polymorphism, Genetic
/
Chromosomes, Human, Pair 22
/
Female
/
Humans
/
Chromosome Aberrations
/
In Situ Hybridization, Fluorescence
/
Down Syndrome
/
Facies
/
Karyotype
/
Infant
Language:
English
Journal:
Indian J Hum Genet
Year:
2014
Type:
Article
Similar
MEDLINE
...
LILACS
LIS