Cytogenetic investigations in couples with repeated miscarriages and malformed children: report of a novel insertion

Abstract Recurrent miscarriage and the birth of a malformed child continue to be challenging problems for the patient and clinician. Often, cytogenetic studies have an important role in the evaluation of couples with a poor obstetric history. The present study deals with analysis of chromosome abnor...

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Bibliographic Details
Published in:Reproductive biomedicine online 2007, Vol.14 (3), p.314-321
Main Authors: Iyer, Priya, Wani, Leena, Joshi, Smruti, Lakshmi, Jyothi, Dalvi, Rupa, Chavan, Deepak, Ranjan Das, Bibhu, Mandava, Swarna
Format: Article
Language:English
Subjects:
Abortion, Habitual - genetics
Abortion, Spontaneous
balanced translocation
Chromosome Aberrations
Congenital Abnormalities - genetics
Cytogenetics - methods
Female
Genetic Variation
Humans
India
Infant
insertion
inversion
Karyotyping
Male
Obstetrics and Gynecology
Pedigree
Phenotype
poor obstetric history
recurrent miscarriage
Translocation, Genetic
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Summary:Abstract Recurrent miscarriage and the birth of a malformed child continue to be challenging problems for the patient and clinician. Often, cytogenetic studies have an important role in the evaluation of couples with a poor obstetric history. The present study deals with analysis of chromosome abnormalities in 2150 couples from India, and is the largest group ever reported in the literature. The observed incidence of chromosomal rearrangements in these couples was 3.5%. Apart from reciprocal, Robertsonian, inversions, a unique case of chromosome insertion was identified, which is perhaps only the second report in literature. Minor chromosome variants such as inv(9), inv(Y),9qh+, D/G variants were observed in 108 subjects. Cytogenetic studies should be performed for all couples with repeated miscarriages and bad obstetric history, and in cases of detected chromosomal aberration, the patient should be counselled individually according to the type of anomaly.
ISSN:1472-6483
1472-6491
DOI:10.1016/S1472-6483(10)60873-5