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
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Polimorfismo Genético
/
Cromossomos Humanos Par 22
/
Feminino
/
Humanos
/
Aberrações Cromossômicas
/
Hibridização in Situ Fluorescente
/
Síndrome de Down
/
Fácies
/
Cariótipo
/
Lactente
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2014
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS