𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Young–Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

✍ Scribed by Deanne Mraz Robinson; Cecilia C. Meagher; Craig C. Orlowski; Erin Caine Lagoe; Chin-To Fong

Book ID
101455150
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
87 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Infantile lethal variant of Simpson-Gola
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis
✍ Terespolsky, D. ;Farrell, S. A. ;Siegel-Bartelt, J. ;Weksberg, R. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB 👁 1 views

to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(S).