Article
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.
American journal of human genetics - 1 Jun 1991
Wang J C, Passage M B, Yen P H, Shapiro L J, Mohandas T K
Abstract excerpt
A 9-year-old mentally retarded girl with multiple congenital anomalies was found to carry a balanced 13/14 Robertsonian translocation [45,XX,t(13q14q)] which was also present in her father. Her mother carried a balanced reciprocal translocation between chromosomes 1 and 14 [46,XX,t(1;14) (q32;q32...
Topics
- Blotting, Southern
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 13
- Chromosomes, Human, Pair 14
- DNA
- DNA Probes
- Female
- Heterozygote
- Humans
- Karyotyping
- Phenotype
- Syndrome
- Translocation, Genetic