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.

Colpocephaly

Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.


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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.