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Vol. 132, No. 1-2, 2011
Issue release date: November 2010
Section title: Original Article
Cytogenet Genome Res 2011;132:8–15
(DOI:10.1159/000320920)

19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development

Siggberg L.a · Olsén P.b · Näntö-Salonen K.c · Knuutila S.d
aDepartment of Pathology, Haartman Institute, University of Helsinki, Helsinki, bDepartment of Pediatrics, University Hospital of Oulu, Oulu, cDepartment of Pediatrics, University Hospital of Turku, Turku, dDepartment of Pathology, Haartman Institute, and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland

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Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 6/10/2010
Published online: 10/8/2010
Issue release date: November 2010

Number of Print Pages: 8
Number of Figures: 3
Number of Tables: 1

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

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

Abstract

Here, we describe 2 patients with de novo genomic imbalances of 19p13.3. Using high-resolution microarray analysis, we detected a 1.25-Mb deletion in one patient and a 0.81- Mb duplication in another. The resulting phenotypes are quite different; one is a 2-year-old boy with macrocephaly and normal growth, while the other is a 9-year-old boy with microcephaly and growth retardation since birth. Both have dysmorphic features and psychomotor developmental delay. This report gives evidence of the effect of small aberrations of chromosome 19 and describes the phenotypes arising from a duplication and deletion of the same location at 19p13.3.

© 2010 S. Karger AG, Basel


  

Article Information

Accepted: June 10, 2010 by J.A. Crolla
Published online: October 8, 2010
Number of Print Pages : 8
Number of Figures : 3, Number of Tables : 1, Number of References : 12

  

Publication Details

Cytogenetic and Genome Research

Vol. 132, No. 1-2, Year 2011 (Cover Date: November 2010)

Journal Editor: Schmid M. (Würzburg)
ISSN: 1424-8581 (Print), eISSN: 1424-859X (Online)

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


Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 6/10/2010
Published online: 10/8/2010
Issue release date: November 2010

Number of Print Pages: 8
Number of Figures: 3
Number of Tables: 1

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

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


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