PMID: 9182783Jun 27, 1997Paper

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

American Journal of Medical Genetics
E A EugsterB Hirsch

Abstract

We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic abnormality and the possibility of mosaicism, the incidence of such deletions has probably been underestimated. While a characteristic phenotype associated with this karyotypic abnormality was described recently, the present report highlights the additional clinical findings of obesity and hyperphagia and the overlap of manifestations with Prader-Willi syndrome.

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Citations

Feb 24, 2001·Genetic Testing·C FridmanC P Koiffmann
Oct 27, 2016·Revista chilena de pediatría·Sabina Bello, Antonio Rodríguez-Moreno
Oct 21, 2009·American Journal of Medical Genetics. Part a·Anne-Claire BursztejnChristophe Nemos
Dec 7, 2013·American Journal of Medical Genetics. Part a·Shino ShimadaToshiyuki Yamamoto
Oct 19, 2002·American Journal of Human Genetics·John A Crolla, Veronica van Heyningen
Dec 15, 2010·European Journal of Medical Genetics·Motti HaimiAaron Lerner
Jul 19, 2005·Brain & Development·Agatino Battaglia
Nov 7, 2016·Physiological Genomics·Stefanie Y TanG William Wong
Sep 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa G ShafferTamim Shaikh
Aug 6, 2003·American Journal of Medical Genetics. Part a·Luisa FlorezYves Lacassie
Nov 10, 2005·American Journal of Medical Genetics. Part a·Tiong Yang TanRavi Savarirayan
Apr 6, 2018·Frontiers in Genetics·Estephania CandeloHarry Pachajoa

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