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| Status |
Public on Mar 09, 2010 |
| Title |
A Novel Dominant Mesomelic Dysplasia Associated with A 1.0-Mb Microduplication of HOXD Gene Cluster at 2q31.1 |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
|
| Summary |
A three-generation family with four patients affected by a mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene within this duplicated region showed consistent results. A phenotypically similar condition, mesomelic dysplasia Kantaputra type (MDKa; MIM 156232)[1], has also been mapped to this chromosomal region[2], raising the possibility that MDKa and the condition observed in this family may be allelic.
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| |
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| Overall design |
three-generation family including four affected individuals and two unaffected individuals
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| |
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| Contributor(s) |
Park W, Cho T |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Mar 09, 2010 |
| Last update date |
Oct 27, 2015 |
| Contact name |
Woong Yang Park |
| E-mail(s) |
wypark@snu.ac.kr
|
| Phone |
+82-02-740-8241
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| Fax |
+82-02-744-4534
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| Organization name |
Seoul National University
|
| Department |
Biochemistry and Molecular Biology
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| Lab |
Molecular and Genomic Medicine
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| Street address |
28 Yongondong, Chongnogu
|
| City |
Seoul |
| ZIP/Postal code |
110-799 |
| Country |
South Korea |
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| Platforms (1) |
| GPL10150 |
Agilent-022060 SurePrint G3 Human CGH Microarray 4x180K (Probe Name version) |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA125005 |
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