Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
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.
Robinson
Deanne Mraz
DM
Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Golisano Children's Hospital at Strong, Rochester, New York, USA.
Meagher
Cecilia C
CC
Orlowski
Craig C
CC
Lagoe
Erin Caine
EC
Fong
Chin-To
CT
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005183:Failure to Thrive / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020411:Oligonucleotide Array Sequence Analysis; D013577:Syndrome
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors