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

doi:10.1136/jmg.32.3.236

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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...

Topics

Adult
Alleles
Animals
Base Sequence
Cell Fusion
Cells, Cultured
Chromosomes, Human, Pair 22
DNA Probes
DiGeorge Syndrome
Family Health
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fibroblasts

Fragile X Mental Retardation Protein

Fragile X Syndrome

Genetic Markers

Humans

Infant, Newborn

Male

Source

Open in PubMed Open full text

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7783179-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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