title: Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.
abstract: We report on a girl with a dicentric chromosome 14 [45,XX,inv(9)(p11q13),dic(14;14)(p11.1;p11.1)] with paternal uniparental disomy (UPD) for chromosome 14. Clinical findings include severe hypotonia, thoracic dystrophy, diastasis recti, swallowing difficulties with aspiration, developmental delay, and multiple minor anomalies. UPD for chromosome 14 has been documented with paternal UPD much less commonly than with maternal UPD. There have been ten cases of paternal UPD for chromosome 14 and one case of segmental paternal isodisomy of chromosome 14. Many of the findings are nonspecific, but the radiographic rib findings (referred to as the "coat-hanger" sign) are characteristic for this condition. UPD 14 studies should be performed in children thought to have Jeune asphyxiating thoracic dystrophy or other related osteochondrodysplasias when the diagnosis is in question. Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA. David.Stevenson@hsc.utah.edu
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: Arthur R
authors.initials: AR
authors.lastname: Brothman
authors.forename: Zhong
authors.initials: Z
authors.lastname: Chen
authors.forename: Pinar
authors.initials: P
authors.lastname: Bayrak-Toydemir
authors.forename: Nicola
authors.initials: N
authors.lastname: Longo
mesh_terms: D000015:Abnormalities, Multiple; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003680:Deglutition Disorders; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009123:Muscle Hypotonia; D010641:Phenotype; D012272:Ribs / Q000002:abnormalities*; D013909:Thorax / Q000002:abnormalities; D024182:Uniparental Disomy / Q000235:genetics*