Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) in a child with translocation down syndrome.
Indian J Pediatr
;
2009 Dec; 76(12): 1265-1267
Artigo
em Inglês
| IMSEAR
| ID: sea-142456
ABSTRACT
We report a case of familial small supernumerary marker chromosome (sSMC) in a child with translocation Down syndrome (DS)and mother.The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar.The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes .Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14.The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(p11-q11).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Translocação Genética
/
Trissomia
/
Cromossomos Humanos Par 14
/
Feminino
/
Humanos
/
Masculino
/
Bandeamento Cromossômico
/
Adolescente
/
Hibridização in Situ Fluorescente
/
Síndrome de Down
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2009
Tipo de documento:
Artigo
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