Total: 1 |
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PMID (PMCID) | ||
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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. |
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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. |