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

doi:10.1111/j.1399-0004.1994.tb04001.x

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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...

Topics

Cells, Cultured
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Monosomy
Mosaicism
Phenotype
Sex Chromosome Aberrations
X Chromosome

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