Tetrasomy 15q25.2 arrow right qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

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 identifie...

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Veröffentlicht in:	American journal of medical genetics. Part A 2012-08, Vol.158A (8), p.1971-1976
Hauptverfasser:	George-Abraham, Jaya K, Zimmerman, Sarah L, Hinton, Robert B, Marino, Bradley S, Witte, David P, Hopkin, Robert J
Format:	Artikel
Sprache:	eng
Schlagworte:	Arachnodactyly
Online-Zugang:	Volltext
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