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Article

A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood.

American journal of medical genetics - 9 Aug 1996

Maddalena A, Yadvish K N, Spence W C, Howard-Peebles P N

Abstract excerpt

Individuals with developmental delay who are found to have only fragile X premutations present an interpretive dilemma. The presence of the premutation could be an unrelated coincidence, or it could be a sign of mosaicism involving a full mutation in other tissues. To investigate three cases of this type, buccal epithelium was collected on cytology brushes for Southern blot analysis. In one notable case, the...

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PMID: 8844071
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<309::AID-AJMG15>3.0.CO;2-J

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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