Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
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 diagnos...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/490408 |
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| author | Matthew J. Garabedian Donna Wallerstein Nubia Medina James Byrne Robert J. Wallerstein |
| author_facet | Matthew J. Garabedian Donna Wallerstein Nubia Medina James Byrne Robert J. Wallerstein |
| author_sort | Matthew J. Garabedian |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ae736501558046aa90b3f42998af15e7 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-ae736501558046aa90b3f42998af15e72025-02-03T01:23:47ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/490408490408Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 GenesMatthew J. Garabedian0Donna Wallerstein1Nubia Medina2James Byrne3Robert J. Wallerstein4Department of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose, CA 95128, USADepartment of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose, CA 95128, USADepartment of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose, CA 95128, USADepartment of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose, CA 95128, USADepartment of Pediatrics and Genetics, Santa Clara Valley Medical Center, San Jose, CA 95128, USAWe 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.http://dx.doi.org/10.1155/2012/490408 |
| spellingShingle | Matthew J. Garabedian Donna Wallerstein Nubia Medina James Byrne Robert J. Wallerstein Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes Case Reports in Genetics |
| title | Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes |
| title_full | Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes |
| title_fullStr | Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes |
| title_full_unstemmed | Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes |
| title_short | Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes |
| title_sort | prenatal diagnosis of cystic hygroma related to a deletion of 16q24 1 with haploinsufficiency of foxf1 and foxc2 genes |
| url | http://dx.doi.org/10.1155/2012/490408 |
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