Abstract
Two fragile-X [fra)X)] pedigrees are described, in each of which one member shows a low count of fra(X)-positive cells. One of these two members has large ears and macroorchidism but normal intelligence; the other has normal intelligence but shows an estimated risk to be a fra(X) carrier >90% using the DNA probe U6.2. These data show that individuals with low-count fra(X) cells should be considered as fra(X)-positive when they belong to a fra(X) pedigree and/or present some clinical features of the Martin-Bell syndrome. More specific tools are needed for the laboratory diagnosis of the fra(X) syndrome.
Original language | English |
---|---|
Pages (from-to) | 38-44 |
Number of pages | 7 |
Journal | Brain Dysfunction |
Volume | 3 |
Issue number | 1-2 |
Publication status | Published - 1990 |
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)