Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports
The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which...
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/878796 |
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| author | F. Sheth O. R. Akinde C. Datar O. V. Adeteye J. Sheth |
| author_facet | F. Sheth O. R. Akinde C. Datar O. V. Adeteye J. Sheth |
| author_sort | F. Sheth |
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| description | The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH). |
| format | Article |
| id | doaj-art-3b889891b6014e1faac0bacceefd0082 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
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| series | Case Reports in Genetics |
| spelling | doaj-art-3b889891b6014e1faac0bacceefd00822025-08-20T03:55:41ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/878796878796Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case ReportsF. Sheth0O. R. Akinde1C. Datar2O. V. Adeteye3J. Sheth4FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, IndiaFRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, IndiaSahyadri Medical Genetics and Tissue Engineering Facility, 1170/01, Barve Memorial Complex, J.M. Road, Pune 411005, IndiaFRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, IndiaFRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, IndiaThe Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH).http://dx.doi.org/10.1155/2012/878796 |
| spellingShingle | F. Sheth O. R. Akinde C. Datar O. V. Adeteye J. Sheth Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports Case Reports in Genetics |
| title | Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports |
| title_full | Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports |
| title_fullStr | Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports |
| title_full_unstemmed | Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports |
| title_short | Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports |
| title_sort | genotype phenotype characterization of wolf hirschhorn syndrome confirmed by fish case reports |
| url | http://dx.doi.org/10.1155/2012/878796 |
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