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.
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收藏
页码：299 / 306
页数：8
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