Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Abstract

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.

• Authors: S Kantarci, D Casavant, C Prada, M Russell, J Byrne, L Wilkins Haug, R Jennings, S Manning, T K Boyd, J P Fryns, L B Holmes, P K Donahoe, C Lee, V Kimonis, B R Pober
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 1 Pg. 17-23 (Jan 01 2006) ISSN: 1552-4825 [Print] United States
• PMID: 16333846 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, N.I.H., Extramural)
• Copyright: (c) 2005 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Chromosome Deletion
• Chromosomes, Human, Pair 1 (genetics)
• Cleft Palate (pathology)
• Craniofacial Abnormalities (pathology)
• Fatal Outcome
• Genetic Predisposition to Disease (genetics)
• Genome, Human
• Hernia, Diaphragmatic (genetics)
• Hernias, Diaphragmatic, Congenital
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Infant, Newborn
• Karyotyping
• Limb Deformities, Congenital (pathology)
• Nails, Malformed
• Nucleic Acid Hybridization (methods)
• Syndrome