1.
S D Med
; 70(11): 505-509, 2017 Nov.
Article
in English
| MEDLINE
| ID: mdl-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.
Subject(s)
Beckwith-Wiedemann Syndrome/diagnosis , Beckwith-Wiedemann Syndrome/genetics , Genomic Imprinting , Uniparental Disomy/diagnosis , Fathers , Humans , Infant , Male , Uniparental Disomy/genetics
2.
Mov Disord
; 28(13): 1904-5, 2013 Nov.
Article
in English
| MEDLINE
| ID: mdl-23813796