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

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.

• Authors: Deanne Mraz Robinson, Cecilia C Meagher, Craig C Orlowski, Erin Caine Lagoe, Chin-To Fong
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 12 Pg. 1571-4 (Jun 15 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 18470891 (Publication Type: Case Reports, Journal Article)
• Copyright: 2008 Wiley-Liss, Inc.

Chemical References

• FOXL2 protein, human
• Forkhead Box Protein L2
• Forkhead Transcription Factors

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Cardiomyopathy, Dilated (congenital, diagnosis, genetics)
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 1 (genetics)
• Congenital Hypothyroidism (diagnosis, genetics)
• DNA Mutational Analysis
• Failure to Thrive (diagnosis, genetics)
• Female
• Forkhead Box Protein L2
• Forkhead Transcription Factors (genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Oligonucleotide Array Sequence Analysis
• Syndrome