New microdeletion and microduplication syndromes: A comprehensive review

被引：66

作者：

Nevado, Julian ^{[1
,2
]}

Mergener, Rafaella ^{[3
]}

Palomares-Bralo, Maria ^{[1
,2
]}

Regina Souza, Karen ^{[3
]}

Vallespin, Elena ^{[1
,2
]}

Mena, Rocio ^{[1
,2
]}

Martinez-Glez, Victor ^{[1
,2
]}

Angeles Mori, Maria ^{[1
,2
]}

Santos, Fernando ^{[1
,4
]}

Garcia-Minaur, Sixto ^{[1
,4
]}

Garcia-Santiago, Fe ^{[1
,5
]}

Mansilla, Elena ^{[1
,5
]}

Fernandez, Luis ^{[1
,6
]}

Luisa de Torres, Maria ^{[1
,5
]}

Riegel, Mariluce ^{[3
,7
]}

Lapunzina, Pablo ^{[1
,4
,8
]}

机构：

[1] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Rara, Madrid, Spain

[2] Hosp Univ La Paz, Inst Genet Med & Mol, Sect Funct & Struct Gen, Madrid 28046, Spain

[3] Univ Fed Rio Grande do Sul, Programa Posgrad Genet Biol Mol, Porto Alegre, RS, Brazil

[4] Hosp Univ La Paz, Inst Genet Med & Mol, Clin Genet Sect, Madrid 28046, Spain

[5] Hosp Univ La Paz, Inst Genet Med & Mol, Sect Cytogenet, Madrid 28046, Spain

[6] Hosp Univ La Paz, Inst Genet Med & Mol, Sect Preanalyt, Madrid 28046, Spain

[7] Hosp Clin Porto Alegre, Servi Genet Med, Porto Alegre, RS, Brazil

[8] Hosp Univ La Paz, Inst Genet Med & Mol, Overgrowth Disordes Lab, Sect Mol Endocrinol, Madrid 28046, Spain

来源：

GENETICS AND MOLECULAR BIOLOGY | 2014年 / 37卷 / 01期

关键词：

microdeletion; microduplication; chromosome rearrangement; novel deletions; novel duplications; PHENOTYPE; DELETIONS; FEATURES; PATIENT;

D O I：

10.1590/S1415-47572014000200007

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists.

引用

页码：210 / 219

页数：10

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