Mosaicismo 45,X/46,X,r(Y) associato a disgenesia gonadica mista. Descrizione di un caso e rassegna della letteratura.

Translated title of the contribution: Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature

L. Bruni, S. Gregory, R. Boldrini, V. Brinchi, E. Ferrante

Research output: Contribution to journalArticlepeer-review

Abstract

The structural anomalies of Y chromosome even if rare, are very interesting for the possibility of mapping male-determining genes. The authors report a case of ring (Y) chromosome to further elucidate the phenotype associated with a deleted Y chromosome and to present informations about the location of genes on the Y chromosome. The literature's cases are also reviewed and compared to Author's.

Translated title of the contributionMosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature
Original languageItalian
Pages (from-to)495-497
Number of pages3
JournalPediatria Medica e Chirurgica
Volume9
Issue number4
Publication statusPublished - Jul 1987

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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