Prader-Willi syndrome : and other chromosome 15q deletion disorders /
The book presents the current knowledge on the Prader-Willi- and Angelman syndrome, two human chromosome disorders associated with mental retardation and other features. These two clinically dissimilar syndromes share unique genetics: in over half of the people with each of these disorders, the same...
| Corporate Authors: | , |
|---|---|
| Other Authors: | |
| Format: | Conference Proceeding eBook |
| Language: | English |
| Published: |
Berlin :
Springer-Verlag,
[1992]
|
| Series: | NATO ASI series. Cell biology ;
vol. 61. |
| Subjects: | |
| Online Access: | Connect to the full text of this electronic book |
| Summary: | The book presents the current knowledge on the Prader-Willi- and Angelman syndrome, two human chromosome disorders associated with mental retardation and other features. These two clinically dissimilar syndromes share unique genetics: in over half of the people with each of these disorders, the same deletion of the proximal long arm of chromosome 15 can be found. However, the deletion occurs in the paternally derived chromosome in Prader-Willi syndrome and in the maternally derived in Angelman syndrome. Emphasis is placed on the molecular genetics including genetic imprinting, recurrence risk determination, cytogenetics, and epidemiology of these disorders, as well as delineation of newly described clinical features. |
|---|---|
| Item Description: | "Proceedings of the NATO Advanced Research Workshop on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders held at Noordwijkerhout, the Netherlands, from May 2-3 1991." |
| Physical Description: | 1 online resource (xii, 265 pages) : illustrations. |
| ISBN: | 9783642842832 3642842836 |