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Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation



Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation



Journal of Research in Medical Sciences 17(6): 572-574



To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation. Cytogenetic analysis was performed using G-banding and Molecular cytogenetic analysis by Fluorescence in situ hybridization to confirm the breakpoint regions. 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. 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.

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Accession: 054432362

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PMID: 23626637


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