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Article

A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female.

Clinical genetics - 1 Feb 1994

Palka G, Calabrese G, Stuppia L, Guanciali Franchi P, Morizio E, Peila R, Antonucci A

Abstract excerpt

A liveborn female with a phenotype suggestive of Down syndrome is reported. Cytogenetic lymphocyte analysis showed a 46,X der(X) karyotype. Fluorescence in situ hybridization (FISH) with a biotinylated probe specific for chromosome 21 showed no signal on the der(X). This marker was homogeneously painted using a specific probe for X chromosome. In addition, FISH analysis detected telomeres on the rearranged X....

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Source

Identifiers

PMID: 8004805
DOI: 10.1111/j.1399-0004.1994.tb04001.x

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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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A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female.PMID 8004805Read ↗

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