Monosomy 5p

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Optic nerve hypoplasia

Underdevelopment of the optic nerve.


Total: 1

                       


(per page)
PMID (PMCID)
21290965
 FEMALE Infant, Newborn
Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5.
Flores Ramirez F, Abreu Gonzalez M, Garcia Delgado C, Aparicio Onofre A, Guevara Yanez R, Sanchez Urbina R, Murguia Peniche T, Ramirez-Ortiz MA, Ibarra Rios D, Ortiz de Luna RI, Cervantes Peredo AB, Moran Barroso VF.
Genet Couns. 2010;21(4):363-73.
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.