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A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

20 Oct 2009

Abstract excerpt

BACKGROUND Beckwith-Wiedemann syndrome (BWS) is a clinically variable and genetically heterogeneous disorder, providing evidence that imprinted genes play key roles in the control of fetal growth. Clinically, diagnostic criteria include macrosomia, macroglossia, abdominal wall defects, neonatal hypoglycaemia, visceromegalies and hemihyperplasia. Component clinical manifestations also include renal abnormalities,...

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PMID: 19843502
DOI: 10.1136/jmg.2009.071142

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