Article
Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2010
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
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.