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...
Topics
- Adolescent
- Child, Preschool
- Chromosome Aberrations
- Chromosomes, Human, X
- Chromosomes, Human, Y
- Disorders of Sex Development
- Female
- Gonads
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Phenotype
- Polymerase Chain Reaction
- Sex Differentiation
- Turner Syndrome