Chromosome 21 fluorescent heteromorphisms were studied in 42 patients with Down's syndrome, their parents and their siblings. Included in this number are two instances of an aunt and niece affected with trisomy 21, and one of affected siblings. One case has a de novo 21/21 translocation. Blood group
The use of DNA probes to establish parental origin in Down syndrome
โ Scribed by Noreen L. Rudd; Leo S. Dimnik; Carol Greentree; Kelly Mendes-Crabb; David I. Hoar
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 416 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
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A recombinant clone was isolated containing a sequence which occurs only on human chromosome 21 and defines a two-allele restriction fragment length polymorphism showing Mendelian inheritance. Forty seven percent of the London population are heterozygous for the polymorphism. The chromosomal locatio
Restriction fragment length polymorphic probes are being used more frequently in the molecular analysis of Down's syndrome and in the origin of nondisjunction in the syndrome. The type of information gained from RFLPs overlaps but differs from the information from cytogenetic heteromorphisms. From t