OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITH DEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE

AK GEDEON, M KEINANEN, LC ADES, H KAARIAINEN, J GECZ, E BAKER, GR SUTHERLAND, JC MULLEY

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)907-914
Number of pages8
JournalAmerican Journal of Human Genetics
Volume56
Issue number4
Publication statusPublished - Apr 1995
Externally publishedYes

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