1. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap in chromosome 22q11
- Author
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Funke, B., Edelmann, L., McCain, N., Pandita, R.K., Ferreira, J., Merscher, S., Zohouri, M., Cannizzaro, L., Shanske, A., and Morrow, B.E.
- Subjects
Chromosome mapping -- Usage ,Genetic disorders -- Research ,Face -- Abnormalities ,Heart -- Abnormalities ,Birth defects -- Genetic aspects ,Trisomy -- Research ,Mental retardation -- Genetic aspects ,Biological sciences - Abstract
Derivative 22 (der (22)) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome have in common a 1.5-Mb region in chromosome 22q11. Der(22) syndrome is rare. It is associated with a number of congenital irregularities including preauricular skin tags or pits, profound mental retardation, and conotruncal heart defects. It may occur in children of carriers of the constitutional t(11;22)(q23;q11) translocation, the result of a 3:1 meiotic malsegregation event that leads to partial trisomy of chromosomes 22 and 11. The trisomic region on chromosome 22 overlaps the region hemizygously missing in another congenital disorder involving anomalies, that is, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Fluorescence in situ hybridization (FISH) mapping and haplotype analysis were carried out for five patients with der(22) syndrome in a project to identify the interval on 22q11 containing the t(11;22) breakpoint.
- Published
- 1999