Article
Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
American journal of medical genetics. Part A - 1 Aug 2012
George-Abraham Jaya K, Zimmerman Sarah L, Hinton Robert B, Marino Bradley S, Witte David P, Hopkin Robert J
Abstract excerpt
We report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound imaging revealed a heart defect, pleural effusion, clubbed feet, and absent right kidney. Clinical cytogenetic analysis of amniocytes identified a marker chromosome present in 10 out of 15 cells analyzed. Clinical evaluation of the neonate revealed distinct...
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