Discordant phenotypes and 45,X/46,X,idic(Y).

doi:10.1136/jmg.35.10.862

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Article

Discordant phenotypes and 45,X/46,X,idic(Y).

Journal of medical genetics - 1 Oct 1998

Kelly T E, Franko J B, Rogol A, Golden W L

Abstract excerpt

Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is prim...

Topics

Adolescent
Female
Gonadal Dysgenesis, Mixed
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Middle Aged
Mosaicism
Phenotype
Polymerase Chain Reaction
Sex Determination Processes
Turner Syndrome
X Chromosome
Y Chromosome

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