Article
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
American journal of medical genetics. Part A - 1 Jul 2014
Pavone Piero, Briuglia Silvana, Falsaperla Raffaele, Warm Amiel, Pavone Vito, Bernardini Laura, Novelli Antonio, Praticò Andrea D, Salpietro Vincenzo, Ruggieri Martino
Abstract excerpt
A 2 ½-year-old girl with multiple congenital anomalies and a de novo 5.6-Mb deletion on chromosome 13q12.11-13q12.13 is reported. She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small...
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