Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

被引：9

作者：

Gervasini, C. ^{[1
]}

Pfundt, R. ^{[2
]}

Castronovo, P. ^{[1
]}

Russo, S. ^{[3
]}

Roversi, G. ^{[1
]}

Masciadri, M. ^{[3
]}

Milani, D. ^{[4
]}

Zampino, G. ^{[5
]}

Selicorni, A. ^{[4
]}

Schoenmakers, E. F. P. M. ^{[2
]}

Larizza, L. ^{[1
,3
]}

机构：

[1] Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy

[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[3] Ist Auxol Italiano, Mol Genet Lab, Milan, Italy

[4] Fdn Policlin Mangiagalli Regina Elena, Clin Pediat I, Milan, Italy

[5] Cattolica Univ, Dept Pediat, Rome, Italy

来源：

CLINICAL GENETICS | 2008年 / 74卷 / 06期

关键词：

15qter deletion; array-CGH; Cornelia de Lange syndrome; genomic imbalances;

D O I：

10.1111/j.1399-0004.2008.01086.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome characterized by varied clinical signs including facial dysmorphism, pre- and post-natal growth defects, small hands and malformations of the upper limbs. Established genetic causes include mutations in the NIPBL (50-60%), SMC1L1 and SMC3 (5%) genes. To detect chromosomal rearrangements pointing to novel positional candidate CdLS genes, we used array-CGH to analyze a subgroup of 24 CdLS patients negative for mutations in the NIPBL and SMC1L1 genes. We identified three carriers of DNA copy number alterations, including a de novo 15q26.2-qter 8-Mb deletion, and two inherited 13q14.2-q14.3 1-Mb deletion and 13q21.32-q21.33 1.5-Mb duplication, not reported among copy number variants. The clinical presentation of all three patients matched the diagnostic criteria for CdLS, and the phenotype of the patient with the 15qter deletion is compared to that of both CdLS and 15qter microdeletion patients.

引用

页码：531 / 538

页数：8

共 31 条

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