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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...

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PMID: 8215218

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