Institute of Genetics & Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, 500 016, India.
J Assist Reprod Genet. 2012 Jul;29(7):651-6. doi: 10.1007/s10815-012-9756-4. Epub 2012 Apr 4.
To evaluate the clinical, biochemical and cytogenetic analyses of a couple with reproductive failure.
A couple with a history of recurrent pregnancy loss was referred to the Institute of Genetics for cytogenetic evaluation. Chromosomal analysis of the phenotypically normal parents was done to ascertain the role of chromosomal abnormalities and offer appropriate genetic counseling. Further, advanced karyotype analysis by spectral karyotyping was also carried out in the couple and parents of the female partner.
Clinical and hormonal profile of the couple revealed normal phenotypes. The ultrasound scan of the female showed normal uterus and ovaries. Chromosomal analysis of the couple revealed a normal 46, XY karyotype in the male spouse, and a unique balanced reciprocal translocation 46, XX, t(12;13) (q13;q33) + 15pstk+ chromosomal constitution in the female partner. Cytogenetic analysis of her parents revealed a similar translocation between chromosomes 12 and 13 in the father and 15pstk+ in the mother. Further, corroboration of the chromosome abnormalities was carried out by spectral karyotyping.
A unique and novel familial transmission of paternally derived balanced reciprocal translocation and maternally derived heteromorphism in a female with the history of recurrent pregnancy loss was reported as an original investigation.
评估一对反复妊娠失败夫妇的临床、生化和细胞遗传学分析结果。
一对有反复妊娠丢失史的夫妇被转介到遗传研究所进行细胞遗传学评估。对表型正常的父母进行染色体分析，以确定染色体异常的作用，并提供适当的遗传咨询。此外，还对夫妇和女性父母进行了高级核型分析，即光谱核型分析。
夫妇的临床和激素谱显示正常表型。女性的超声扫描显示正常的子宫和卵巢。夫妇的染色体分析显示男性配偶的正常 46，XY 核型，而女性伴侣则存在独特的平衡易位 46，XX，t(12;13) (q13;q33) + 15pstk+ 染色体构成。其父母的细胞遗传学分析显示父亲存在 12 号和 13 号染色体之间的类似易位，母亲则存在 15pstk+。进一步通过光谱核型分析证实了染色体异常。
本研究报道了一对反复妊娠失败的夫妇，其女性携带父源性平衡易位和母源性异态性，这是一种独特的家族遗传。
