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|
|Number of pages||3|
|Journal||Pediatria Medica e Chirurgica|
|Publication status||Published - Jul 1987|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health