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

• Published in: American journal of medical genetics. Part A Vol. 146A; no. 12; pp. 1571 - 1574
• Main Authors: Robinson, Deanne Mraz, Meagher, Cecilia C., Orlowski, Craig C., Lagoe, Erin Caine, Fong, Chin‐To
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.06.2008; Wiley-Liss
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Biological and medical sciences; blepharophimosis; Cardiology. Vascular system; Cardiomyopathy, Dilated - congenital; Cardiomyopathy, Dilated - diagnosis; Cardiomyopathy, Dilated - genetics; Child, Preschool; Chromosome aberrations; Chromosome Deletion; Chromosomes, Human, Pair 1 - genetics; Classical genetics, quantitative genetics, hybrids; Congenital Hypothyroidism - diagnosis; Congenital Hypothyroidism - genetics; del(p36); dilated cardiomyopathy; DNA Mutational Analysis; epicanthus inversus; Failure to Thrive - diagnosis; Failure to Thrive - genetics; Female; Forkhead Box Protein L2; Forkhead Transcription Factors - genetics; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Heart; Human; Humans; In Situ Hybridization, Fluorescence; Malformations of the eye; Medical genetics; Medical sciences; monosomy 1p36; Myocarditis. Cardiomyopathies; Oligonucleotide Array Sequence Analysis; Ophthalmology; Syndrome; Young–Simpson syndrome; Chromosomal aberration; Genetic mapping; Young-Simpson syndrome; Aneuploidy; Cardiovascular disease; Blepharophimosis; Congenital disease; Myocardial disease; Epicanthus; Syndrome; del(p36); Variant; Eye disease; Congestive hypertrophic cardiomyopathy; Dilated cardiomyopathy; Eyelid disease; Malformation; Heart disease; epicanthus inversus; monosomy 1p36; Monosomy
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32096

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.