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Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025.

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

Author information

1
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
2
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
3
Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah.
4
Department of Obstetrics and Gynecology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts.
5
Department of Surgery, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
6
Division of Newborn Medicine, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
7
Department of Pathology, Children's Hospital, Harvard Medical School, Boston, Massachusetts.
8
Department of Genetics, University Hospital of Leuven, Leuven, Belgium.
9
Genetics and Teratology, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
10
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
#
Contributed equally

Erratum in

  • Am J Med Genet A. 2006 May 1;140(9):1031. Blaise, F [added].

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.

PMID:
16333846
PMCID:
PMC2891730
DOI:
10.1002/ajmg.a.31025
[Indexed for MEDLINE]
Free PMC Article
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