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Dutta, Usha and Vijaya Kumar, P. and Dalal, Ashwin (2012) Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation. Journal of Research in Medical sciences, 17 (6). pp. 572-4. ISSN 1735-1995

JRMS 17 p572.pdf

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AIM: To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation. MATERIALS AND METHODS: Cytogenetic analysis was performed using G-banding and Molecular cytogenetic analysis by Fluorescence in situ hybridization to confirm the breakpoint regions. RESULTS: The chromosomal analysis of the two cases revealed a karyotype of 46,X,t(X;22)(p11.21;q13.3) in the first patient and 46,X,t(X;2)(q22;q13) in second patient. Both the cases were confirmed by using whole chromosome paint probes. CONCLUSIONS: This is the rare report of X-autosomal translocations with unique breakpoint regions and their association with recurrent miscarriages. The translocation breakpoint in case 2 on Xq22 and on Xp11.21 in case 1 might be a risk factor for recurrent miscarriages. Here the impact of the X-autosomal translocations is discussed.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 11 Sep 2015 09:52
Last Modified: 14 Sep 2017 13:01
URI: http://cdfd.sciencecentral.in/id/eprint/496

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