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Article

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

Journal of medical genetics - 1 Mar 1995

Macpherson J N, Curtis G, Crolla J A, Dennis N, Migeon B, Grewal P K, Hirst M C, Davies K E, Jacobs P A

Abstract excerpt

In a fragile X family referred for prenatal diagnosis, the female fetus did not inherit the full fragile X mutation from her mother, but an unexpected expansion within the normal range of CGG repeats from 29 to 39 was observed in the paternal X chromosome. Also, a rare recombination between DXS548 and FRAXAC1 was recorded in the maternal meiosis. Follow up of the neonate confirmed the same DNA genotype as in the...

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Identifiers

PMID: 7783179
DOI: 10.1136/jmg.32.3.236
PMCID: PMC1050327

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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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