Caregiver Burden in Fragile X Families

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چکیده

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Twelve families with fragile X(q27).

Through a community study of boys requiring special education for the severely mentally retarded, 12 families were ascertained in which the fragile X was found to be segregating. By assiduous follow up of these families, it was found that in only four of them could male transmission be ruled out from the grandparents' or great grandparents' generation and that the segregation ratios are disturbed.

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Intragenic probe used for diagnostics in fragile X families.

The intragenic (FMR-1) probe pE5.1 was used for DNA analysis in fragile X families. With this probe fragments of altered size can be detected in female carriers, affected individuals and transmitting males. The length of the altered fragments was found to vary from one generation to another as well as between sibs. This instability of the DNA detected by pE5.1 was also seen in peripheral blood ...

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ژورنال

عنوان ژورنال: Current Psychiatry Reviews

سال: 2013

ISSN: 1573-4005

DOI: 10.2174/1573400511309010013