Article
Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.
American journal of medical genetics - 20 Nov 1995
Papenhausen P R, Mueller O T, Johnson V P, Sutcliffe M, Diamond T M, Kousseff B G
Abstract excerpt
Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation du...
Topics
- Abnormalities, Multiple
- Abortion, Habitual
- Adult
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 14
- Female
- Genomic Imprinting
- Humans
- Infant, Newborn
- Infant, Premature
- Intellectual Disability
- Male
- Meiosis
- Minisatellite Repeats
- Phenotype
- Pregnancy
- Translocation, Genetic