Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 415-422
Artigo
em Inglês
| IMSEAR
| ID: sea-156607
ABSTRACT
BACKGROUND:
Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages.PURPOSE:
The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. MATERIALS ANDMETHODS:
A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G‑banding and fluorescence in situ hybridization wherever necessary.RESULTS:
Chromosomal rearrangements were found in 170 individuals (3.5%). Translocations were seen in 72 (42.35%) cases. Of these, reciprocal translocations constituted 42 (24.70%) cases while Robertsonian translocations were detected in 30 (17.64%) cases. 7 (4.11%) cases were mosaic, 8 (4.70%) had small supernumerary marker chromosomes and 1 (0.6%) had an interstitial microdeletion. Nearly, 78 (1.61%) cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70%) and chromosome 9 pericentromeric variants (32.05%) were predominantly involved.CONCLUSIONS:
Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Translocação Genética
/
Feminino
/
Masculino
/
Marcadores Genéticos
/
Aborto Espontâneo
/
Estudos Retrospectivos
/
Aberrações Cromossômicas
/
Adolescente
/
Adulto
/
Adulto Jovem
Tipo de estudo:
Estudo observacional
/
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Artigo
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