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

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

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-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 contribution	Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature
Original language	Italian
Pages (from-to)	495-497
Number of pages	3
Journal	Pediatria Medica e Chirurgica
Volume	9
Issue number	4
Publication status	Published - Jul 1987

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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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.",

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AU - Boldrini, R.

AU - Brinchi, V.

AU - Ferrante, E.

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AB - 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.

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