A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay

European Journal of Medical Genetics
Christian T ThielAnita Rauch

Abstract

We delineate a pure "distal 14q duplication" phenotype, characterized by primordial short stature, mild developmental delay, and distinct facial dysmorphism with high forehead, mild hypertelorism, broad nasal bridge, dysplastic ear helices, short philtrum, thin and "cupid bow" upper lip, broad mouth, and micrognathia.

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Citations

Nov 19, 2015·European Journal of Endocrinology·Jan M WitSarina G Kant
Nov 26, 2015·Molecular Cytogenetics·Hande Küçük Kurtulganİlhan Sezgin
Apr 10, 2013·Gene·Ilária Cristina SgardioliVera Lúcia Gil-da-Silva-Lopes
Mar 11, 2015·American Journal of Medical Genetics. Part a·Jill A RosenfeldJ Britt Ravnan
Jul 19, 2011·Pediatric Neurology·Vijay RamaswamyFrançois V Bolduc
Aug 9, 2016·Molecular Cytogenetics·Nicoletta VillaAngelo Selicorni
Jun 12, 2016·American Journal of Medical Genetics. Part a·Julia Bregand-WhiteAleksandar Rajkovic
Sep 28, 2017·Scientific Reports·Silvia VidalUNKNOWN Rett Working Group
May 20, 2011·American Journal of Medical Genetics. Part a·Philip D PallisterJohn M Opitz

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