Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome
Kantarci, S × Casavant, D Prada, C Russell, M Byrne, J Haug, L Wilkins Jennings, R Manning, S Blaise, F Boyd, T K Fryns, Jean-Pierre Holmes, L B Donahoe, P K Lee, Chung Kimonis, V Pober, B R #
American Journal of Medical Genetics A vol:140 issue:1 pages:17-23
Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of approximately 1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi-site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41-q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH.