12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/192071 |
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| _version_ | 1832561025240530944 |
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| author | Adrian Mc Cormack Cynthia Sharpe Nerine Gregersen Warwick Smith Ian Hayes Alice M. George Donald R. Love |
| author_facet | Adrian Mc Cormack Cynthia Sharpe Nerine Gregersen Warwick Smith Ian Hayes Alice M. George Donald R. Love |
| author_sort | Adrian Mc Cormack |
| collection | DOAJ |
| description | To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient’s deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome. |
| format | Article |
| id | doaj-art-828080e7bf57431289d3caffc7408dbc |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-828080e7bf57431289d3caffc7408dbc2025-02-03T01:26:12ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/19207119207112q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly RegionAdrian Mc Cormack0Cynthia Sharpe1Nerine Gregersen2Warwick Smith3Ian Hayes4Alice M. George5Donald R. Love6Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandDepartment of Neuroservices, Starship Children’s Health, Private Bag 92024, Auckland 1142, New ZealandGenetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New ZealandMiddlemore Hospital, Private Bag 93311, Otahuhu, Auckland 1640, 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 ZealandTo date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient’s deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.http://dx.doi.org/10.1155/2015/192071 |
| spellingShingle | Adrian Mc Cormack Cynthia Sharpe Nerine Gregersen Warwick Smith Ian Hayes Alice M. George Donald R. Love 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region Case Reports in Genetics |
| title | 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region |
| title_full | 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region |
| title_fullStr | 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region |
| title_full_unstemmed | 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region |
| title_short | 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region |
| title_sort | 12q14 microdeletions additional case series with confirmation of a macrocephaly region |
| url | http://dx.doi.org/10.1155/2015/192071 |
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