Common Recurrent Microduplication Syndromes: Diagnosis and Management in Clinical Practice

被引：25

作者：

Berg, Jonathan S. ^{[3
]}

Potocki, Lorraine ^{[1
,2
]}

Bacino, Carlos A. ^{[1
,2
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Texas Childrens Hosp, Houston, TX 77030 USA

[3] Univ N Carolina, Dept Genet, Chapel Hill, NC USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 05期

关键词：

microduplication; genomic disorders; copy number variants; clinical management in duplication syndromes; SMITH-MAGENIS-SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; 15Q24 MICRODELETION SYNDROME; IDIOPATHIC GENERALIZED EPILEPSY; 22Q11.2 DUPLICATION SYNDROME; EXPRESSIVE-LANGUAGE DELAY; CONTIGUOUS GENE DELETION; CONGENITAL HEART-DISEASE; DIGEORGE-SYNDROME REGION; COPY-NUMBER VARIATIONS;

D O I：

10.1002/ajmg.a.33185

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Details on the phenotypic consequences of genomic microdeletions and microduplications are rapidly emerging in the wake of increased utilization of high-resolution methods for the detection of genomic copy number variants (CNVs). Due to their recent discovery, the complete phenotypic characterization of these syndromes is still in progress. For practicing clinicians, this unprecedented molecular diagnostic capability has in many cases outpaced our ability to convey conclusive information regarding these conditions to patients and family members. In particular, genomic microduplication syndromes are frequently associated with variable phenotypes and incomplete penetrance, leading to difficulty in counseling regarding the potential future consequences of a given microduplication. In this review, we have attempted to provide an initial set of recommendations for the management of patients with recurrent microduplication syndromes. We summarize the clinical information for microduplications of 14 different genomic regions and provide a framework for clinical evaluation and anticipatory guidance in these conditions. It is our expectation that these preliminary guidelines will be revised further for each microduplication syndrome as more information becomes available. (C) 2010 Wiley-Liss, Inc.

引用

页码：1066 / 1078

页数：13

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