Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype

American Journal of Medical Genetics. Part a
David A StevensonNicola Longo

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.

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Citations

May 25, 2011·Pediatric Radiology·Osamu MiyazakiTsutomu Ogata
Jun 18, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deborah Krakow, David L Rimoin
Jan 21, 2010·European Journal of Pediatrics·Maria PiccioneGiovanni Corsello
Jul 29, 2008·European Journal of Medical Genetics·Maria Antonietta MencarelliAlessandra Renieri
Sep 18, 2008·American Journal of Medical Genetics. Part a·Maria PiccioneGiovanni Corsello
Apr 6, 2011·American Journal of Medical Genetics. Part a·Kim M Keppler-NoreuilMarcia C Willing
May 23, 2006·Prenatal Diagnosis·Logos CurtisSiv Fokstuen
Aug 21, 2007·American Journal of Medical Genetics. Part a·Joerg MattesMatthew Edwards
Jan 2, 2020·BMJ Case Reports·Joana Isabel Igreja da SilvaCristina Nogueira-Silva
Jul 13, 2018·Journal of Cardiovascular Development and Disease·Tiffany L Dill, Francisco J Naya
Jun 1, 2021·AJP Reports·Rishika P SakariaAjay J Talati
Sep 18, 2021·European Journal of Translational Myology·Ai Vu HongDavid Israeli

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