PMID: 11343338May 9, 2001Paper

Unique case of trisomy 2p24.3-pter with no associated monosomy

American Journal of Medical Genetics
J A RoggenbuckN J Mendelsohn

Abstract

We report a 3-year-old girl with trisomy 2p24.3-pter who presented with marked psychomotor delay and dysmorphic features. This patient represents the only known case of trisomy 2p24.3-2pter that does not involve an associated functional monosomy. In contrast to recent reports highlighting the fatal or serious complications in patients described as having partial trisomy 2p, this patient does not have significant birth defects or life threatening medical problems. Notably, this patient does not have a neural tube defect (NTD), which has been attributed to a putative locus at 2p24 in other patients with a partial trisomy 2p.

References

Dec 1, 1977·The Journal of Pediatrics·S B CassidyE Engel
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Apr 1, 1973·Annals of Human Genetics·A J TherkelsenT Iversen
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Oct 21, 1999·American Journal of Medical Genetics·G K HahmJ M Opitz
Oct 26, 2000·American Journal of Medical Genetics·M Al-SaffarV M Der Kaloustian

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Citations

Jan 11, 2013·Fetal and Pediatric Pathology·Consolato SergiDeepak Kamnasaran
Jun 17, 2016·Revista da Associação Médica Brasileira·Wellcy Gonçalves TeixeiraMaíra Cristina Menezes Freire
Mar 3, 2005·American Journal of Medical Genetics. Part a·Linlea ArmstrongHolly H Hobart
Sep 14, 2007·American Journal of Medical Genetics. Part a·Nicolas GruchyMarie-France Portnoï
Jul 7, 2010·The Korean journal of laboratory medicine·Jong Ho LeeBo Chan Jung

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