Abstract
Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against PstI restriction digests of DNA. Deletions were detected initially by the control probe pS8, which is an anonymous fragment subcloned from YAC 539, within 1 Mb distal to FRAXA. Further molecular analyses determined that the maximum size of the deletion is
Original language | English |
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Pages (from-to) | 907-914 |
Number of pages | 8 |
Journal | American Journal of Human Genetics |
Volume | 56 |
Issue number | 4 |
Publication status | Published - Apr 1995 |
Externally published | Yes |