5q11.2 deletion in a patient with tracheal agenesis.
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.
de Jong
Elisabeth M
EM
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Douben
Hannie
H
Eussen
Bert H
BH
Felix
Janine F
JF
Wessels
Marja W
MW
Poddighe
Pino J
PJ
Nikkels
Peter G J
PG
de Krijger
Ronald R
RR
Tibboel
Dick
D
de Klein
Annelies
A
D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D014132:Trachea / Q000002:abnormalities*