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Article

Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicism.

Human genetics - 1 Mar 1995

Novak A Z, Kokai G K, Popovic V P, Ludoski M D, Jurukovski V A

Abstract excerpt

The difficulty of detecting sex chromosome mosaicism cytogenetically hinders the finding of an acceptable explanation for phenotypic-genotypic discrepancy amongst those patients. Fluorescence in situ hybridization (FISH) permits the genomic identification of patients with mosaic karyotypes in interphase nuclei by utilising an X chromosome-specific DNA probe (interphase cytogenetics). We evaluated the efficiency...

Topics

Adult
DNA Probes
Female
Genotype
Humans
In Situ Hybridization, Fluorescence
Interphase
Metaphase
Mosaicism
Oocytes
Ovary
Paraffin Embedding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Turner Syndrome

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Identifiers

PMID: 7868121
DOI: 10.1007/BF00225196

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7868121-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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