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Article

A fragile X case with an amplification/deletion mosaic pattern.

Human genetics - 1 Mar 2000

García Arocena D, de Diego Y, Oostra B A, Willemsen R, Mirta Rodriguez M

Abstract excerpt

Fragile X syndrome is the most common cause of hereditary mental retardation. The FMR1 gene, which is involved in fragile X syndrome, contains a polymorphic CGG repeat, which expands in affected patients. Expanding triplet repeats have been shown to be a new type of mutation, termed "dynamic mutation", responsible for more than 12 genetic diseases. These mutations occur as multiple steps rather than as a single...

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Source

Identifiers

PMID: 10798369
DOI: 10.1007/s004390051052

Genes

FMR1

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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