Title: Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome
Authors: 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 #
Issue Date: Jan-2006
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:140 issue:1 pages:17-23
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.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
× corresponding author
# (joint) last author

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