Two Novel Familial Balanced Trans locations t(8;11)(p23;q21) and t(6;16)(q26;p12) Implicated in Recurrent Spontaneous Abortion

被引：2
|
作者：
Keify, Fatemeh [2 ]
Zhiyan, Narges [2 ,3 ]
Mirzaei, Farzaneh [2 ]
Tootian, Semiramis [2 ]
Ghazaey, Saeedeh [2 ]
Abbaszadegan, Mohammad R. [1 ,2 ]
机构：
[1] Mashhad Univ Med Sci, Immunol Res Ctr, Avicenna Res Inst, Mashhad 9196773117, Iran
[2] Pardis Clin & Genet Lab, Mashhad, Iran
[3] Razavis Social Welf Org, Mashhad, Iran
来源：
ARCHIVES OF IRANIAN MEDICINE | 2012年 / 15卷 / 04期
关键词：
Balanced translocation; karyotyping; t(8; 11); t(6; 16); PREIMPLANTATION GENETIC DIAGNOSIS; TRANSLOCATIONS;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Reciprocal translocations represent one of the most common structural rearrangements observed in humans. Estimates of the population frequency range from 1/673 to 1/1000. We have described two novel balanced translocations in two unrelated families who experienced Recurrent Spontaneous Abortions (RSA) following their separate non-consanguineous marriages. Initial cytogenetic studies were performed on cultured blood cells. High resolution GTG-banding analysis using cytovision software performed on their chromosomes revealed a novel balanced translocation t(8;11)(p23;q21) in a brother (45 years) and his sister (27 years) in one family. The second novel balanced translocation t(6;16)(q26;p12) was observed in a consanguineous couple with 4 RSA. These two families have an increased risk of having children with unbalanced karyotypes or RSA, because of incorrect chromosomal segregation during meiosis.
引用
收藏
页码：249 / 252
页数：4
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