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

Jennifer A Reed; Patricia L Crotwell; Quinn Stein; Amy Mroch; Laura Davis-Keppen; Akram Khan

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

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

Authors

Jennifer A Reed^{1

2}, Patricia L Crotwell³, Quinn Stein⁴, Amy Mroch³, Laura Davis-Keppen^{1

2}, Akram Khan^{1

2}

Affiliations

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.

PMID: 29088522

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.

Publication types

Case Reports

MeSH terms

Beckwith-Wiedemann Syndrome / diagnosis*
Beckwith-Wiedemann Syndrome / genetics*
Fathers
Genomic Imprinting*
Humans
Infant
Male
Uniparental Disomy / diagnosis*
Uniparental Disomy / genetics