A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome
β Scribed by Anthony P. Amarose; Peter R. Huttenlocher; Rita M. Sprudzs; Thomas J. Laitsch; Mark J. Pettenati
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 395 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
A fragile site on chromosome 12, at 12q24.13, was found in the lymphocytes of two members of a family during the study for detection of a fragile X chromosome. The site was found to be heritable and folate-sensitive, and it fulfills all four criteria for a fragile site. It thus can now be confirmed as the heritable fragile site FRA12C.
π SIMILAR VOLUMES
We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site