A FAMILIAL RECIPROCAL TRANSLOCATION t(1;15) IN THREE GENERATIONS IDENTIFIED IN A REGULAR TRISOMY 21 PATIENT

被引：0

作者：

Garcia-Delgado, C. ^{[1
]}

Bahena-Martinez, E. ^{[1
]}

Aparicio-Onofre, A. ^{[1
]}

Guevara-Yanez, R.

Cervantes-Peredo, A. ^{[2
]}

Azotla-Vilchis, O. C. ^{[1
]}

Estrada-Mena, J.

Luna-Angulo, A.

Villa-Morales, J. ^{[1
]}

Moran-Barroso, V. F.

机构：

[1] Hosp Infantil Mexico Dr Federico Gomez, Dept Genet, Mexico City 06720, DF, Mexico

[2] Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Serv Genet, Fac Med, Mexico City, DF, Mexico

来源：

GENETIC COUNSELING | 2010年 / 21卷 / 03期

关键词：

Trisomy; 21; Familial translocation; t(1; 15); IN-SITU HYBRIDIZATION; CARRIERS; SPERM; SEGREGATION;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient: The concurrence of a reciprocal translocation and an aneuploidy represent a rare coincidence and an interchromosome effect between these two events has been suggested. We report the case of a family with a t(1;15) in three generations which was identified through the evaluation of a patient with classical trisomy 21 or Down syndrome. The cytogenetic analysis with GTG banding showed that the proband had a regular trisomy 21 and a balanced translocation t(1;15). FISH and microsatellite analysis were carried out in the family in order to discard an interchromosomal effect. The implications for genetic assessment are discussed.

引用

页码：299 / 306

页数：8

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