Article
Distinct phenotype in maternal uniparental disomy of chromosome 14.
American journal of medical genetics - 1 Jun 1994
Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J
Abstract excerpt
We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moder...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 14
- Female
- Humans
- Phenotype
- Sex Chromosome Aberrations
- Translocation, Genetic
- X Chromosome