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Article

45,X/46,XY mosaicism and fragile X syndrome.

American journal of medical genetics. Part A - 1 Jan 2003

Banes Shannon L, Begleiter Michael L, Butler Merlin G

Abstract excerpt

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Topics

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Share to Chromosomes, Human, X
Share to Chromosomes, Human, Y
Share to Fragile X Mental Retardation Protein
Share to Fragile X Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mosaicism

Share to Nerve Tissue Proteins

Share to RNA-Binding Proteins

Share to Sex Chromosome Aberrations

Source

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Identifiers

PMID: 12476462
DOI: 10.1002/ajmg.a.10006
PMCID: PMC5438263

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

45,X/46,XY mosaicism and fragile X syndrome.PMID 12476462Read ↗

45,X/46,XX/47,XXX phenotype.Semantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell lineSemantic proximity Read ↗

Unusual clinical syndrome in a boy with 45,X/46,XY mosaicism.Semantic proximity Read ↗

Low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell lineSemantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a fetus with a favorable fetal outcome and the karyotype of 46,XX in the neonatal peripheral blood at age 4½ monthsSemantic proximity Read ↗

Molecular and cellular genetics of fragile X syndrome.Semantic proximity Read ↗

45,X/46,XX mosaicism in patients with idiopathic premature ovarian failureSemantic proximity Read ↗

45,X/46,XX at amniocentesis associated with a favorable outcome and postnatal decrease of the 45,X cell lineSemantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissuesSemantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell lineSemantic proximity Read ↗

[Trisomy 8 mosaicism: 46,XX/47,XX+8].Semantic proximity Read ↗

[46 XY--female phenotype: not just Morris syndrome].Semantic proximity Read ↗

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