Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies

被引：13
作者：
Willemsen, Marjolein H. [1 ]
de Leeuw, Nicole [1 ]
de Brouwer, Arjan P. M. [1 ]
Pfundt, Rolph [1 ]
Hehir-Kwa, Jayne Y. [1 ]
Yntema, Helger G. [1 ]
Nillesen, Willy M. [1 ]
de Vries, Bert B. A. [1 ]
van Bokhoven, Hans [1 ]
Kleefstra, Tjitske [1 ]
机构：
[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet 849, NL-6500 HB Nijmegen, Netherlands
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 11期
关键词：
X-linked; Intellectual disability; Autism; X-chromosome; Copy number variation; Clinical interpretation; LINKED MENTAL-RETARDATION; COMPARATIVE GENOMIC HYBRIDIZATION; ARRAY-CGH; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DELAY; MICROARRAY ANALYSIS; GENE DELETION; SHORT STATURE; TM4SF2; GENE; VCX-A;
D O I：
10.1016/j.ejmg.2012.05.001
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Genome-wide array studies are now routinely being used in the evaluation of patients with cognitive disorders (CD) and/or congenital anomalies (CA). Therefore, inevitably each clinician is confronted with the challenging task of the interpretation of copy number variations detected by genome-wide array platforms in a diagnostic setting. Clinical interpretation of autosomal copy number variations is already challenging, but assessment of the clinical relevance of copy number variations of the X-chromosome is even more complex. This study provides an overview of the X-Chromosome copy number variations that we have identified by genome-wide array analysis in a large cohort of 4407 male and female patients. We have made an interpretation of the clinical relevance of each of these copy number variations based on well-defined criteria and previous reports in literature and databases. The prevalence of X-chromosome copy number variations in this cohort was 57/4407 (similar to 1.3%), of which 15 (0.3%) were interpreted as (likely) pathogenic. (C) 2012 Elsevier Masson SAS. All rights reserved.
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收藏
页码：586 / 598
页数：13
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