Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

被引：35

作者：

Bartnik, Magdalena ^{[1
]}

Nowakowska, Beata ^{[1
]}

Derwinska, Katarzyna ^{[1
]}

Wisniowiecka-Kowalnik, Barbara ^{[1
]}

Kedzior, Marta ^{[1
]}

Bernaciak, Joanna ^{[1
]}

Ziemkiewicz, Kamila ^{[1
]}

Gambin, Tomasz ^{[2
]}

Sykulski, Maciej ^{[3
]}

Bezniakow, Natalia ^{[1
]}

Korniszewski, Lech ^{[4
]}

Kutkowska-Kazmierczak, Anna ^{[1
]}

Klapecki, Jakub ^{[1
]}

Szczaluba, Krzysztof ^{[1
]}

Shaw, Chad A. ^{[5
]}

Mazurczak, Tadeusz ^{[1
]}

Gambin, Anna ^{[6
]}

Obersztyn, Ewa ^{[1
]}

Bocian, Ewa ^{[1
]}

Stankiewicz, Pawel ^{[1
,5
]}

机构：

[1] Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland

[2] Warsaw Univ Technol, Inst Comp Sci, Warsaw, Poland

[3] Univ Warsaw, Inst Informat, Warsaw, Poland

[4] World Hearing Ctr, Inst Physiol & Pathol Hearing, Genet Counseling Unit, Warsaw, Poland

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

[6] Polish Acad Sci, Mossakowski Med Res Ctr, Warsaw, Poland

来源：

JOURNAL OF APPLIED GENETICS | 2014年 / 55卷 / 01期

关键词：

Copy-number variation; Microdeletion; Microduplication; Chromosomal microarray analysis; COPY-NUMBER VARIANTS; IDIOPATHIC MENTAL-RETARDATION; MICRODELETION SYNDROME; INTERSTITIAL DELETION; MOLECULAR CHARACTERIZATION; CONGENITAL-ANOMALIES; ALZHEIMERS-DISEASE; DISORDERS; MICROARRAY; PHENOTYPE;

D O I：

10.1007/s13353-013-0181-x

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.

引用

页码：125 / 144

页数：20

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