Article
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
American journal of human genetics - 1 Aug 1997
Conroy J M, Grebe T A, Becker L A, Tsuchiya K, Nicholls R D, Buiting K, Horsthemke B, Cassidy S B, Schwartz S
Abstract excerpt
The lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal deletion or maternal disomy, accounts for >95% of all patients with Prader-Willi syndrome. Other mechanisms, including imprinting mutations and unbalanced translocations involving pat 15q11-q13, have been...
Topics
- Animals
- Autoantigens
- Child, Preschool
- Chromosome Banding
- Chromosome Breakage
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 2
- Cricetinae
- DNA Methylation
- Fathers
- Gene Expression
- Genomic Imprinting
- Humans
- Hybrid Cells
- In Situ Hybridization, Fluorescence