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
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Polimorfismo Genético
/
Cromosomas Humanos Par 22
/
Femenino
/
Humanos
/
Aberraciones Cromosómicas
/
Hibridación Fluorescente in Situ
/
Síndrome de Down
/
Facies
/
Cariotipo
/
Lactante
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2014
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS