Document Detail


A novel 5q35.3 subtelomeric deletion syndrome.
MedLine Citation:
PMID:  12900893     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We observed a novel 3.5 Mb 5q subtelomeric deletion in a 3-year-old girl with developmental delay, hypotonia and multiple minor anomalies. Comparison of her phenotype with the few published patients with terminal 5q35 deletions revealed several overlapping features, but also showed remarkable differences such as shortness of stature versus macrosomia. After the report of 5q35.3 microdeletions in Sotos syndrome we integrated the published BACs into the public draft sequence and exactly mapped the deletion size in our patient by FISH analysis with 15 BAC probes. We demonstrated that the deletion in our patient is immediately adjacent to the reported Sotos syndrome deletion site. Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion. We further showed in our patient that the deletion of the LCT(4) synthase gene results in a reduction of cysteinyl leukotriene synthesis to about 65% compared to normal values. The prenatal nuchal lymphedema associated with this deletion syndrome my be related to the deletion of the FLT4 gene causing autosomal dominant primary lymphedema and contributes to the differential diagnosis of increased fetal nuchal translucency.
Authors:
Anita Rauch; Maike Beese; Ertan Mayatepek; Helmut-Günther Dörr; Dieter Wenzel; André Reis; Udo Trautmann
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  121A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-05     Completed Date:  2004-03-17     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1-8     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Germany. arauch@humgenet.uni-erlangen.de
Data Bank Information
Bank Name/Acc. No.:
OMIM/117550
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosome Mapping*
Chromosomes, Human, Pair 5 / genetics*
Female
Gene Deletion*
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Lymphedema / complications*,  genetics*
Muscle Hypotonia / complications
Phenotype
Syndrome
Vascular Endothelial Growth Factor Receptor-3 / genetics
Chemical
Reg. No./Substance:
EC 2.7.10.1/Vascular Endothelial Growth Factor Receptor-3

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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