Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.

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dc.contributor.authorSheth, Frenny J
dc.contributor.authorLiehr, Thomas
dc.contributor.authorKumari, Pritti
dc.contributor.authorAkinde, Ralph
dc.contributor.authorSheth, Harsh J
dc.contributor.authorSheth, Jayesh J
dc.date.accessioned2015-03-05T08:51:51Z
dc.date.available2015-03-05T08:51:51Z
dc.date.issued2013-10
dc.description.abstractBACKGROUND: 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 AND METHODS: 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.en_US
dc.identifier.citationSheth Frenny J, Liehr Thomas, Kumari Pritti, Akinde Ralph, Sheth Harsh J, Sheth Jayesh J. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 415-422.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156607
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=4;spage=415;epage=422;aulast=Shethen_US
dc.subjectBreak pointsen_US
dc.subjectchromosomal abnormalitiesen_US
dc.subjectrecurrent loss of pregnancyen_US
dc.subjectsmall supernumerary marker chromosomeen_US
dc.subjecttranslocationsen_US
dc.subject.meshAbortion, Spontaneous --epidemiology
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshChromosome Aberrations --epidemiology
dc.subject.meshFemale
dc.subject.meshFetal Death --epidemiology
dc.subject.meshGenetic Linkage
dc.subject.meshGenetic Markers
dc.subject.meshIndia
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshRetrospective Studies
dc.subject.meshTranslocation, Genetic
dc.subject.meshYoung Adult
dc.titleChromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.en_US
dc.typeArticleen_US
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