PMID: 11343300May 9, 2001Paper

Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion

American Journal of Medical Genetics
N L LehmanE D Adickes

Abstract

A female infant survived 5(1/2) hours after delivery at 33 weeks gestation. Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1-->2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 deletion. Chromosome segment 2q37.1-->2q37.3 may harbor yet another locus important in forebrain development, which, when disrupted, can lead to brain malformations within the HPE spectrum.

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Citations

Dec 18, 2001·Prenatal Diagnosis
May 9, 2002·Neuroreport·Hirofumi NishizumiHitoshi Sakano
Sep 8, 2006·Clinical Dysmorphology·Kouji MasumotoTomoaki Taguchi
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Claude BendavidVéronique David
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Erich Roessler, Maximilian Muenke
Aug 30, 2005·Advances in Pediatrics·Jules G Leroy, Jaime L Frías
Jul 29, 2008·Journal of Child Neurology·Cinzia GalassoPaolo Curatolo
Sep 24, 2004·American Journal of Medical Genetics. Part a·Kari A CasasRena E Falk
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rena E Falk, Kari A Casas

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