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Young–Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
Author(s) -
Robinson Deanne Mraz,
Meagher Cecilia C.,
Orlowski Craig C.,
Lagoe Erin Caine,
Fong ChinTo
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32096
Subject(s) - biology , blepharophimosis , comparative genomic hybridization , genetics , chromosome , gene , ptosis , pharmacology
Abstract The Young–Simpson syndrome (YSS) and 1p36 deletion syndrome are both characterized by facial and heart abnormalities, congenital hypothyroidism, and severe growth and developmental retardation. However, the YSS is characterized by the presence of blepharophimosis and epicanthus inversus, findings not described in monosomy 1p36 patients. We describe a girl with YSS, who presented with the typical facial findings, global retardation, congenital hypothyroidism, and congenital dilated cardiomyopathy. Comparative genomic hybridization chromosomal microarray analysis showed a 1p36.3 deletion, a finding not previously reported in other YSS cases. We propose that YSS is a variant of the 1p36 deletion syndrome. © 2008 Wiley‐Liss, Inc.