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Article

A girl with fragile X premutation from sperm donation.

American journal of medical genetics. Part A - 1 Apr 2008

Wirojanan Juthamas, Angkustsiri Kathleen, Tassone Flora, Gane Louise W, Hagerman Randi J

Abstract excerpt

We present a girl with the fragile X premutation who obtained the premutation allele from donated sperm. Our patient has clinical characteristics of fragile X syndrome including emotional problems and neuropsychological difficulties presenting as learning disabilities. She is also at high risk for premature ovarian failure and low risk for the fragile X-associated tremor ataxia (FXTAS). We suggest fragile X DNA...

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Identifiers

PMID: 18286596
DOI: 10.1002/ajmg.a.31876

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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