Article
Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.
American journal of human genetics - 1 Jun 1993
Antonarakis S E, Blouin J L, Maher J, Avramopoulos D, Thomas G, Talbot C C
Abstract excerpt
Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We recently studied a 9-year-old female with a de novo Robertsonian translocation t(13;14), short stature, mild developmental delay, scoliosis, hyperextensible joints, hydro...
Topics
- Abnormalities, Multiple
- Cells, Cultured
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 13
- Chromosomes, Human, Pair 14
- DNA
- Female
- Genetic Markers
- Genotype
- Humans
- Karyotyping
- Mothers
- Polymorphism, Genetic