5q11.2 deletion in a patient with tracheal agenesis

被引：26

作者：

de Jong, Elisabeth M. ^{[1
,2
]}

Douben, Hannie ^{[1
]}

Eussen, Bert H. ^{[1
]}

Felix, Janine F. ^{[2
]}

Wessels, Marja W. ^{[1
]}

Poddighe, Pino J. ^{[1
]}

Nikkels, Peter G. J. ^{[3
]}

de Krijger, Ronald R. ^{[4
]}

Tibboel, Dick ^{[2
]}

de Klein, Annelies ^{[1
]}

机构：

[1] Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

[2] Erasmus Univ, Med Ctr, Dept Pediat Surg, NL-3000 CA Rotterdam, Netherlands

[3] Univ Med Ctr Utrecht, Dept Pathol, Utrecht, Netherlands

[4] Erasmus Univ, Med Ctr, Dept Pathol, NL-3000 CA Rotterdam, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2010年 / 18卷 / 11期

关键词：

tracheal agenesis; array comparative genomic hybridization; 5q11; deletion; VACTERL; TACRD; FRASER-SYNDROME; SONIC HEDGEHOG; HUMAN GENOME; ASSOCIATION; FOREGUT; MALFORMATIONS; ESOPHAGUS; DEFICIENT; ANOMALIES; DATABASE;

D O I：

10.1038/ejhg.2010.84

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：

Tracheal agenesis (TA) is a rare congenital anomaly of the respiratory tract. Many patients have associated anomalies, suggesting a syndromal phenotype. In a cohort of 12 patients, we aimed to detect copy number variations. In addition to routine cytogenetic analysis, we applied oligonucleotide array comparative genomic hybridization. Our patient cohort showed various copy number variations, of which many were parentally inherited variants. One patient had, in addition to an inherited 16p12.1 deletion, a 3.6Mb deletion on chromosomal locus 5q11.2. This patient had a syndromic phenotype, including vertebral, anal, cardiovascular and tracheo-oesophageal associated anomalies, and other foregut-related anomalies, such as cartilage rings in the oesophagus and an aberrant right bronchus. No common deletions or duplications are found in our cohort, suggesting that TA is a genetically heterogeneous disorder. European Journal of Human Genetics (2010) 18, 1265-1268; doi: 10.1038/ejhg.2010.84; published online 16 June 2010

引用

页码：1265 / 1268

页数：4

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