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A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome

✍ 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

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✦ 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.


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Dissociation between mental retardation
✍ M. A. Voelckel; M. G. Mattei; C. N'Guyen; N. Philip; F. Birg; J. F. Mattei πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 508 KB

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