Document Detail

Prenatal diagnosis of the duplication 17p11.2 associated with Potocki-Lupski syndrome in a foetus presenting with mildly dysmorphic features.
MedLine Citation:
PMID:  22982247     Owner:  NLM     Status:  Publisher    
Duplication 17p11.2 (Potocki-Lupski syndrome (PTLS) MIM# 610883) is a genomic disorder with an estimated incidence of 1 in 25,000 births. As for other genomic disorders this duplication is typically de novo and is not associated with advanced maternal age or advanced paternal age. Herein we describe a prenatal diagnosis of duplication 17p11.2. This diagnosis was not suspected as the prenatal ultrasound findings were non-specific; however, BACs-on-Beads™ technology and array comparative genomic hybridization (aCGH) confirmed the common ∼3.7 Mb duplication. Evaluation of the foetus following termination of pregnancy revealed mildly dysmorphic features as well as congenital anomalies not previously reported in PTLS, specifically left pulmonary isomerism, an abnormally positioned left coronary orifice and nodular cerebellar heterotopia. This report exemplifies the utility of prenatal testing using new genomic technologies even when there are no multiple anomalies on foetal ultrasound. This report also exemplifies the utility of foetal autopsy in the identification of "occult" congenital anomalies.
T Popowski; D Molina-Gomes; L Loeuillet; P Boukobza; J Roume; F Vialard
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-28
Journal Detail:
Title:  European journal of medical genetics     Volume:  -     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-9-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Masson SAS. All rights reserved.
Department of Cytogenetics, Fetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital, Poissy, France; Versailles Saint-Quentin-en-Yvelines University, Versailles, France.
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