title: Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5.
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.
authors.affiliation: Department of Genetics, Hospital Infantil de México Federico Gómez, México, DF México.
authors.forename: F
authors.initials: F
authors.lastname: Flores Ramírez
authors.forename: M
authors.initials: M
authors.lastname: Abreu González
authors.forename: C
authors.initials: C
authors.lastname: García Delgado
authors.forename: A
authors.initials: A
authors.lastname: Aparicio Onofre
authors.forename: R
authors.initials: R
authors.lastname: Guevara Yáñez
authors.forename: R
authors.initials: R
authors.lastname: Sánchez Urbina
authors.forename: T
authors.initials: T
authors.lastname: Murguía Peniche
authors.forename: M A
authors.initials: MA
authors.lastname: Ramírez-Ortíz
authors.forename: D
authors.initials: D
authors.lastname: Ibarra Ríos
authors.forename: R I
authors.initials: RI
authors.lastname: Ortiz de Luna
authors.forename: A B
authors.initials: AB
authors.lastname: Cervantes Peredo
authors.forename: V F
authors.initials: VF
authors.lastname: Morán Barroso
mesh_terms: D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy