[Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature].
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.
Bruni
L
L
V Clinica Pediatrica dell'Università La Sapienza di Roma, Italia.
Gregory
S
S
Boldrini
R
R
Brinchi
V
V
Ferrante
E
E
D002675:Child, Preschool; D002869:Chromosome Aberrations; D006059:Gonadal Dysgenesis / Q000601:surgery; D006060:Gonadal Dysgenesis, Mixed / Q000601:surgery; D006801:Humans; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes
Mosaicismo 45,X/46,X,r(Y) associato a disgenesia gonadica mista. Descrizione di un caso e rassegna della letteratura.