Journal
JOURNAL OF MEDICAL GENETICS
Volume 47, Issue 9, Pages 638-639Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2009.074690
Keywords
-
Categories
Funding
- Ministry for Health, Welfare and Family Affairs, Republic of Korea [A080588]
Ask authors/readers for more resources
A three-generation family with four patients affected by a novel 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. Mesomelic dysplasia Kantaputra type (MDK; MIM 156232),which shares some phenotypes with this family, has also been mapped to a chromosomal region comprising 2q31.1, raising the possibility that MDK and the condition observed in this family may be allelic.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available