Article
Identification of ring Y chromosome: cytogenetic analysis, Southern blot and fluorescent in situ hybridization.
Annales de genetique - 1 Jan 1993
Pezzolo A, Perroni L, Gimelli G, Arslanian A, Porta S, Gandullia P, Gandullia E
Abstract excerpt
A young male with a 45, X/46, X, r(Y)/47, X, r(Y), r(Y)/48, X, r(Y), r(Y), r(Y) karyotype was described. The phenotype was substantially characterized by short stature (< 3rd centile) and by a scrotal hypospadias with a normal sized penis. Fluorescent in situ hybridization (FISH) and molecular analysis by X and Y chromosomes specific probes were performed to identify the origin of the marker chromosomes which had...
Topics
- Adolescent
- Blotting, Southern
- Genotype
- Growth Disorders
- Humans
- Hypospadias
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Mosaicism
- Phenotype