一名因家族性1号与5号染色体易位导致1q32.qter三体和5p单体的患者的临床描述。

Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5.

作者信息

Flores Ramírez F, Abreu González M, García Delgado C, Aparicio Onofre A, Guevara Yáñez R, Sánchez Urbina R, Murguía Peniche T, Ramírez-Ortíz M A, Ibarra Ríos D, Ortiz de Luna R I, Cervantes Peredo A B, Morán Barroso V F

机构信息

Department of Genetics, Hospital Infantil de México Federico Gómez, México, DF México.

出版信息

Genet Couns. 2010;21(4):363-73.

PMID:21290965

Abstract

We describe a patient who had multiple malformations including ventriculomegaly, colpocephaly, corpus callosum, cerebellum and vermix hypoplasia, optic nerve hypoplasia, corneal opacity and congenital heart disease in whom a trisomy 1q32-qter and monosomy 5p derived from a t(1;5)mat was diagnosed by karyotype and FISH analysis. This trisomy/monosomy association has not been previously reported. The familial analysis of the translocation was carried out in four generations and its implications on the phenotype of the patient and genetic counseling are discussed.

摘要

我们描述了一名患有多种畸形的患者，包括脑室扩大、枕部脑膨出、胼胝体、小脑和蚓部发育不全、视神经发育不全、角膜混浊和先天性心脏病。通过核型分析和荧光原位杂交（FISH）分析，诊断出该患者存在源自t(1;5)mat的1q32-qter三体和5p单体。这种三体/单体关联此前尚未见报道。对该易位进行了四代家系分析，并讨论了其对患者表型的影响及遗传咨询情况。