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Vol. 114, No. 1, 2006
Issue release date: May 2006
Section title: Human Cytogenetics Case Report
Cytogenet Genome Res 114:89–92 (2006)
(DOI:10.1159/000091934)

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Varela M.C. · Krepischi-Santos A.C.V. · Paz J.A. · Knijnenburg J. · Szuhai K. · Rosenberg C. · Koiffmann C.P.
aHuman Genome Study Center, and bLaboratory of Human Genetics, Department of Genetics and Evolutionary Biology, University of São Paulo, cNeurology Unit, Children Institute, University of São Paulo, School of Medicine, São Paulo (Brazil); dLaboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center, Leiden (The Netherlands)

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Article / Publication Details

First-Page Preview
Abstract of Human Cytogenetics Case Report

Published online: 5/24/2006

Number of Print Pages: 4
Number of Figures: 2
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

About 15% of patients with a clinical phenotype of Angelman syndrome (AS) have an unknown etiology. We report a patient with features reminiscent of AS, including a pattern of characteristic facial anomalies as well as speech impairment, developmental delay and frequent laughter. In addition, the patient had features not commonly associated with AS such as heart malformations and scoliosis. She was negative in SNURF-SNRPN exon 1 methylation studies and the G-banded karyotype was normal. Array-based comparative genomic hybridization disclosed a deletion of maximally 1 Mb at 17q21.31. The deleted region contains the MAPT gene, implicated in late onset neurodegenerative disorders, and the STH and NP_056258.1 genes. Another gene, such as CRHR1, might also be included based on maximum possible size of the deletion. We suggest that microdeletions within the 17q21.31 segment should be considered as a possible cause of phenotypes resembling AS, particularly when easily controlled seizures and/or cardiac abnormalities are also present.


  

Author Contacts

Request reprints from Carla Rosenberg
Departamento de Genética e Biologia Evolutiva, IB – USP
Rua do Matão, 277 – 2° andar – sala 337
05422-970–São Paulo, SP (Brazil)
telephone: +55 11 3091-7591; fax: +55 11 3091-7553
e-mail: Carlarosenberg45@aol.com
M.C.V. and A.C.V.K.-S. contributed equally to this work.

  

Article Information

Supported by grants from the State of São Paulo Foundation for Support of Research (FAPESP) and the Brazilian National Foundation for Research (CNPq).

Manuscript received: 14 September 2005
Accepted in revised form for publication by M. Schmid,: 20 October 2005.
Number of Print Pages : 4
Number of Figures : 2, Number of Tables : 0, Number of References : 13

  

Publication Details

Cytogenetic and Genome Research

Vol. 114, No. 1, Year 2006 (Cover Date: May 2006)

Journal Editor: Schmid, M. (Würzburg)
ISSN: 1424–8581 (print), 1424–859X (Online)

For additional information: http://www.karger.com/CGR


Article / Publication Details

First-Page Preview
Abstract of Human Cytogenetics Case Report

Published online: 5/24/2006

Number of Print Pages: 4
Number of Figures: 2
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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