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S D Med. 2017 Nov;70(11):505-509.

Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.

Author information

1
University of South Dakota Sanford School of Medicine.
2
Sanford Health, Sioux Falls, South Dakota.
3
Sanford Medical Genetics Laboratory, Sanford Health, Sioux Falls, South Dakota.
4
Augustana University, Sioux Falls, South Dakota.

Abstract

Uniparental disomy (UPD), where two copies of genetic material are from one parent, and none from the other, is a familiar cause of imprinting. We present a premature infant with organomegaly and congenital hyperinsulinism found to have complete UPD of paternal origin as determined by Mendelian inheritance error analysis.

PMID:
29088522
[Indexed for MEDLINE]

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