Case report: Y;6 translocation with deletion of 6p.

  title={Case report: Y;6 translocation with deletion of 6p.},
  author={Ophir D Klein and Kendall H Backstrand and Philip D. Cotter and Elysa Marco and Elliott Sherr and Anne M Slavotinek},
  journal={Clinical dysmorphology},
  volume={14 2},
Translocations between the Y chromosome and an autosome are rare. We report a phenotypic male with a translocation between the Y chromosome and chromosome 6p, leading to partial 6p monosomy and XX male syndrome. He is the second child to be reported with this karyotype. Phenotypic findings included growth retardation, severe developmental delay, a Dandy-Walker malformation, cardiac and urogenital abnormalities, bilateral hearing loss, cleft palate, severe kyphoscoliosis, minor digital anomalies… CONTINUE READING


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