Microduplication of 3p26.3 Implicated in Cognitive Development
We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplicat...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/295359 |
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| _version_ | 1832545318263062528 |
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| author | Leah Te Weehi Raj Maikoo Adrian Mc Cormack Roberto Mazzaschi Fern Ashton Liangtao Zhang Alice M. George Donald R. Love |
| author_facet | Leah Te Weehi Raj Maikoo Adrian Mc Cormack Roberto Mazzaschi Fern Ashton Liangtao Zhang Alice M. George Donald R. Love |
| author_sort | Leah Te Weehi |
| collection | DOAJ |
| description | We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient’s phenotype. |
| format | Article |
| id | doaj-art-9516a51144e24ca2a547f5f89e4a9318 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-9516a51144e24ca2a547f5f89e4a93182025-02-03T07:26:08ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/295359295359Microduplication of 3p26.3 Implicated in Cognitive DevelopmentLeah Te Weehi0Raj Maikoo1Adrian Mc Cormack2Roberto Mazzaschi3Fern Ashton4Liangtao Zhang5Alice M. George6Donald R. Love7Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New ZealandPediatrics Department, Middlemore Hospital, Private Bag 93311, Auckland 1640, 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 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 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 here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient’s phenotype.http://dx.doi.org/10.1155/2014/295359 |
| spellingShingle | Leah Te Weehi Raj Maikoo Adrian Mc Cormack Roberto Mazzaschi Fern Ashton Liangtao Zhang Alice M. George Donald R. Love Microduplication of 3p26.3 Implicated in Cognitive Development Case Reports in Genetics |
| title | Microduplication of 3p26.3 Implicated in Cognitive Development |
| title_full | Microduplication of 3p26.3 Implicated in Cognitive Development |
| title_fullStr | Microduplication of 3p26.3 Implicated in Cognitive Development |
| title_full_unstemmed | Microduplication of 3p26.3 Implicated in Cognitive Development |
| title_short | Microduplication of 3p26.3 Implicated in Cognitive Development |
| title_sort | microduplication of 3p26 3 implicated in cognitive development |
| url | http://dx.doi.org/10.1155/2014/295359 |
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