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Case Reports
. 2010 Nov;18(11):1265-8.
doi: 10.1038/ejhg.2010.84. Epub 2010 Jun 16.

5q11.2 deletion in a patient with tracheal agenesis

Elisabeth M de Jong  1 , Hannie Douben, Bert H Eussen, Janine F Felix, Marja W Wessels, Pino J Poddighe, Peter G J Nikkels, Ronald R de Krijger, Dick Tibboel, Annelies de Klein
Affiliations
Case Reports

5q11.2 deletion in a patient with tracheal agenesis

Elisabeth M de Jong et al. Eur J Hum Genet. 2010 Nov.

Abstract

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 3.6 Mb 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.

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Figures

Figure 1
Figure 1
Visualization and confirmation of deletion 5q11.2. (a) 5q11.2 deletion visualized with Agilent CGH analytics software (version 3.3.28); deviation from 0 on a log2 scale, experiment performed in duplicate. The maximum deleted region ranged from 51 079 864 to 55 001 348 Mb (NCBI Build 36.1). The minimum deleted region ranged from 51 321 507 to 54 958 112 Mb. (b) FISH to a metaphase spread, showing the absence of a green fluorescent signal (BAC RP11–160F8) at 5q11.2 on one chromosome 5. The red signal (BAC RP11-11K19; control probe) is present on both chromosomes on the 5q subtelomeric regions.
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