Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

被引：11

作者：

Wohlleber, Eva ^{[1
]}

Kirchhoff, Maria ^{[2
]}

Zink, Alexander M. ^{[1
]}

Kreiss-Nachtsheim, Martina ^{[1
]}

Kuechler, Alma ^{[3
]}

Jepsen, Birgit ^{[4
]}

Kjaergaard, Susanne ^{[2
]}

Engels, Hartmut ^{[1
]}

机构：

[1] Univ Bonn, Inst Human Genet, Biomed Zentrum, D-53105 Bonn, Germany

[2] Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

[3] Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany

[4] Holbaek Sygehus, Dept Pediat, DK-4300 Holbaek, Denmark

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2011年 / 54卷 / 01期

关键词：

Molecular karyotyping; Microdeletion; 2p14-p15; Mental retardation; Developmental delay; COPY-NUMBER VARIATION; HUMAN GENOME; CYTOGENETIC CHARACTERIZATION; BIPOLAR DISORDER; PROTEIN; SCHIZOPHRENIA; ASSOCIATION; TRANSPORT; 2P15-16.1; CDK5RAP2;

D O I：

10.1016/j.ejmg.2010.09.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative microcephaly. In patient 1, molecular karyotyping detected a 2.23-Mb deletion in chromosome 2p14-p15 including 11 known genes. The second patient, with a 2.84-Mb microdeletion containing 15 genes, was identified in the DECIPHER database. The two deleted regions overlap by a stretch of 1.6 Mb that contains 10 genes, several of which have functions in neuronal development. This report illustrates the power of databases such as DECIPHER and MRNET in assessing the pathogenicity of copy-number variations (CNVs). (C) 2010 Elsevier Masson SAS. All rights reserved.

引用

页码：67 / 72

页数：6

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