Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

Lignende værker

• De novo balanced reciprocal translocation 46,XY,t(6;8)(q13;q22).
  af: Fried, K, et al.
  Udgivet: (1977)
• Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).
  af: Young, R S, et al.
  Udgivet: (1983)
• Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
  af: Conroy, J M, et al.
  Udgivet: (1997)
• A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2
  af: Wiesner, Georgia L., et al.
  Udgivet: (2003)
• Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome
  af: Chih-Ping Chen, et al.
  Udgivet: (2024-03-01)