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Article

FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum.

Annales de genetique - 1 Jan 2000

Alvarez-Nava Francisco, Soto Marisol, Martínez María C, Prieto Minolfa, Alvarez Zunilde

Abstract excerpt

OBJECTIVE: To delineate the phenotypic spectrum (clinical and gonadal features) from patients with a 45,X/46,X,mar(Y) karyotype based upon of their clinical, histological, cytogenetic and molecular evaluation. SUBJECTS: Three patients with a 45,X/46,X,mar(Y) karyotype. METHODS: Clinical assessment, karyotyping, endocrine evaluation, FISH and PCR analyses of several Y-chromosome loci and direct sequencing of the...

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

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Source

Identifiers

PMID: 14659779
DOI: 10.1016/s0003-3995(03)00016-9

Genes

SRY

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.

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