Article
Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region.
American journal of medical genetics - 22 Aug 1997
Robin N H, Harari-Shacham A, Schwartz S, Wolff D J
Abstract excerpt
A number of clinical reports have described children with a variety of congenital anomalies in association with uniparental disomy (upd) of chromosome 14, suggesting that at least some genes on chromosome 14 are subject to parent of origin, or imprinting, effects. However, little else is known ab...
Topics
- Abnormalities, Multiple
- Adult
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 14
- Developmental Disabilities
- Face
- Female
- Genomic Imprinting
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Microcephaly
- Phenotype