Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.
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.
Kantarci
S
S
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
Casavant
D
D
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
Prada
C
C
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Russell
M
M
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
Byrne
J
J
Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah.
Haug
L Wilkins
LW
Department of Obstetrics and Gynecology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Jennings
R
R
Department of Surgery, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Manning
S
S
Division of Newborn Medicine, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Boyd
T K
TK
Department of Pathology, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Fryns
J P
JP
Department of Genetics, University Hospital of Leuven, Leuven, Belgium.
Holmes
L B
LB
Genetics and Teratology, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
Donahoe
P K
PK
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
Lee
C
C
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Kimonis
V
V
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Pober
B R
BR
Department of Surgery, Children's Hospital, Harvard Medical School, Boston, Massachusetts.|Genetics and Teratology, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
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