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Updated: May 11, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation
Usha R Dutta1, Vijaya Kumar Pidugu, Ashwin B Dalal
1Diagnostics Division Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Hyderabad, Andhra Pradesh, India.
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.
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