Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
Joint Authors
Medina, Nubia
Garabedian, Matthew J.
Wallerstein, Donna
Byrne, James
Wallerstein, Robert J.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-08-28
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH).
Deletion o f these genes has previously neither been associated with cystic hygroma nor prenatally diagnosed.
The FOX gene cluster is involved in cardiopulmonary development.
This case expands the phenotypic spectrum o f abnormalities of the FOXF1 and FOXC2 genes, as it seems within the spectrum of function that disruption of the FOX gene cluster would lead to include abnormalities of prenatal onset.
Identification of this association would not be possible with conventional karyotype or targeted aCGH.
This case highlights the power of whole genomic aCGH to further delineate the etiology of birth defects.
American Psychological Association (APA)
Garabedian, Matthew J.& Wallerstein, Donna& Medina, Nubia& Byrne, James& Wallerstein, Robert J.. 2012. Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-475762
Modern Language Association (MLA)
Garabedian, Matthew J.…[et al.]. Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes. Case Reports in Genetics No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-475762
American Medical Association (AMA)
Garabedian, Matthew J.& Wallerstein, Donna& Medina, Nubia& Byrne, James& Wallerstein, Robert J.. Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-475762
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-475762