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

页码：249 / 252

页数：4

共 10 条

[1] Preimplantation genetic diagnosis [J].

Braude, P ;

Pickering, S ;

Flinter, F ;

Ogilvie, CM .

NATURE REVIEWS GENETICS, 2002, 3 (12) :941-953

[2]

Escudero T, 2000, PRENATAL DIAG, V20, P235, DOI 10.1002/(SICI)1097-0223(200003)20:3<235::AID-PD791>3.3.CO

[3]

2-T

[4]

Fert-Ferrer S, 2000, PRENATAL DIAG, V20, P511, DOI 10.1002/1097-0223(200006)20:6<511::AID-PD849>3.0.CO

[5]

2-B

[6]

Munné S, 1998, PRENATAL DIAG, V18, P1450, DOI 10.1002/(SICI)1097-0223(199812)18:13<1450::AID-PD509>3.3.CO

[7]

2-H

[8] Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22) [J].

Van Assche, E ;

Straessen, C ;

Vegetti, W ;

Bonduelle, M ;

Vandervorst, M ;

Van Steirteghem, A ;

Liebaers, I .

MOLECULAR HUMAN REPRODUCTION, 1999, 5 (07) :682-690

[9]

Van Dyke LL, 1983, HUM GENET, V35, P301

[10]

WARBURTON D, 1991, AM J HUM GENET, V49, P995

← 1 →