Dernier ajout | 17 novembre 2016
Publié jeudi 17 novembre 2016
The PRISMS Professional Advisory Board has written an in-depth review of SMS. This review is published on another web site called GeneReviews, a medical genetics resource for physicians, health care providers and researchers. GeneReviews is funded by the National Institutes of Health and developed at the University of Washington, Seattle.
While the review is written primarily for professionals, parents may also find this publication very useful. (...)
Publié lundi 31 octobre 2016
DIAGNOSIS IS BASED ON EVIDENCE
Diagnosis of this syndrome relies on showing the deletion inside of 17p11.2. Deletion means that a fragment of DNA is missing from the chromosome. The deletion can range from a small portion to a larger portion.
For the human genotype, the loss in genetic material is only visible with a minimum of 4 million pairs. Below this size, it is a micro deletion which can only be detected using special techniques, with hybridization and fluorescence. If a micro (...)