Article
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
American journal of human genetics - 1 Oct 1992
Cassidy S B, Lai L W, Erickson R P, Magnuson L, Thomas E, Gendron R, Herrmann J
Abstract excerpt
Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). We describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may...
Topics
- Adult
- Alleles
- Amnion
- Chromosome Aberrations
- Chromosomes, Human, Pair 15
- DNA Restriction Enzymes
- Female
- Gestational Age
- Humans
- Infant, Newborn
- Karyotyping
- Lymphocytes
- Male
- Maternal Age
- Polymorphism, Restriction Fragment Length
- Prader-Willi Syndrome
- Pregnancy
- Pregnancy, High-Risk