title: 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.affiliation: Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
authors.forename: S
authors.initials: S
authors.lastname: Kantarci
authors.affiliation: Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
authors.forename: D
authors.initials: D
authors.lastname: Casavant
authors.affiliation: Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: C
authors.initials: C
authors.lastname: Prada
authors.affiliation: Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
authors.forename: M
authors.initials: M
authors.lastname: Russell
authors.affiliation: Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah.
authors.forename: J
authors.initials: J
authors.lastname: Byrne
authors.affiliation: Department of Obstetrics and Gynecology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: L Wilkins
authors.initials: LW
authors.lastname: Haug
authors.affiliation: Department of Surgery, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: R
authors.initials: R
authors.lastname: Jennings
authors.affiliation: Division of Newborn Medicine, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: S
authors.initials: S
authors.lastname: Manning
authors.affiliation: Department of Pathology, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: T K
authors.initials: TK
authors.lastname: Boyd
authors.affiliation: Department of Genetics, University Hospital of Leuven, Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.affiliation: Genetics and Teratology, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
authors.forename: L B
authors.initials: LB
authors.lastname: Holmes
authors.affiliation: Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
authors.forename: P K
authors.initials: PK
authors.lastname: Donahoe
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: C
authors.initials: C
authors.lastname: Lee
authors.affiliation: Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: V
authors.initials: V
authors.lastname: Kimonis
authors.affiliation: Department of Surgery, Children's Hospital, Harvard Medical School, Boston, Massachusetts.|Genetics and Teratology, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
authors.forename: B R
authors.initials: BR
authors.lastname: Pober
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002972:Cleft Palate / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000473:pathology; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology; D009264:Nails, Malformed; D009693:Nucleic Acid Hybridization / Q000379:methods*; D013577:Syndrome