Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes
We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analys...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/823451 |
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| _version_ | 1849398986124820480 |
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| author | Adrian Mc Cormack Juliet Taylor Nerine Gregersen Alice M. George Donald R. Love |
| author_facet | Adrian Mc Cormack Juliet Taylor Nerine Gregersen Alice M. George Donald R. Love |
| author_sort | Adrian Mc Cormack |
| collection | DOAJ |
| description | We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare the phenotype with those reported in the literature. Taken together, these data suggest that there is a spectrum of disease severity such that patients with deletions encompassing the region of 2q32.1q32.2, which includes the FRZB gene, show an apparently milder phenotype compared to those that lie further distal in 2q32.3q35 that encompasses the SATB2 gene. |
| format | Article |
| id | doaj-art-a41d2c0f0f4f4b10aa125a2cab959a86 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a41d2c0f0f4f4b10aa125a2cab959a862025-08-20T03:38:26ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/823451823451Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” SyndromesAdrian Mc Cormack0Juliet Taylor1Nerine Gregersen2Alice M. George3Donald R. Love4Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandGenetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New ZealandGenetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDiagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandWe report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare the phenotype with those reported in the literature. Taken together, these data suggest that there is a spectrum of disease severity such that patients with deletions encompassing the region of 2q32.1q32.2, which includes the FRZB gene, show an apparently milder phenotype compared to those that lie further distal in 2q32.3q35 that encompasses the SATB2 gene.http://dx.doi.org/10.1155/2013/823451 |
| spellingShingle | Adrian Mc Cormack Juliet Taylor Nerine Gregersen Alice M. George Donald R. Love Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes Case Reports in Genetics |
| title | Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes |
| title_full | Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes |
| title_fullStr | Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes |
| title_full_unstemmed | Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes |
| title_short | Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes |
| title_sort | delineation of 2q32q35 deletion phenotypes two apparent proximal and distal syndromes |
| url | http://dx.doi.org/10.1155/2013/823451 |
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