Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
| Autor: | Christopher N. Vlangos, Sarah H. Elsea, Dwight K. C. Yim |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Male
Adolescent Retinoic acid induced 1 Endocrinology Diabetes and Metabolism Non-allelic homologous recombination Biology Biochemistry Contiguous gene syndrome Endocrinology Intellectual Disability Genetics medicine Humans Abnormalities Multiple Child Molecular Biology In Situ Hybridization Fluorescence Low copy repeats Syndrome Microdeletion syndrome Smith–Magenis syndrome medicine.disease Chromosome 17 (human) Child Preschool Female Chromosome Deletion Haploinsufficiency Chromosomes Human Pair 17 |
| Zdroj: | Molecular genetics and metabolism. 79(2) |
| ISSN: | 1096-7192 |
| Popis: | Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with an interstitial deletion of chromosome 17p11.2. SMS is thought to be a contiguous gene syndrome caused by haploinsufficiency of one or more genes in the associated deletion region. To date, no gene has been reported to contribute to the characteristics seen in the SMS phenotype. To expedite the search for the SMS causative genes, we have reduced the SMS critical region to approximately 950kb by analyzing 11 patient samples carrying 17p11.2 deletions. In addition, we have re-evaluated the frequency with which different 17p11.2 deletions naturally occur, showing evidence that homologous recombination likely takes place between low copy repeats at a higher frequency than previously reported. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect