Characterization of three overlapping deletions causing X-linked lymphoproliferative disease

Genomics. 1993 Apr;16(1):254-5. doi: 10.1006/geno.1993.1169.

Abstract

Blot hybridization was used to find DNA sequences missing in a male who lacked two-thirds of Xq25. The probes were used to discover two additional males with deletions resulting in X-linked lymphoproliferative disease (XLP). All three deletions have a region in common, and DXS739 is within this candidate region. The new deletions were also detectable using chromosome banding, and the smallest removes only one-third of Xq25. XLP is the only consequence of the deletions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Female
  • Genetic Linkage
  • Herpesviridae Infections / complications
  • Herpesvirus 4, Human
  • Humans
  • Infant
  • Lymphoproliferative Disorders / etiology
  • Lymphoproliferative Disorders / genetics*
  • Male
  • X Chromosome*