Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.
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.
Center for Human Genetics, Boston University School of Medicine, Massachusetts.
J
J
Skare
B L
BL
Wu
S
S
Madan
V
V
Pulijaal
D
D
Purtilo
D
D
Haber
D
D
Nelson
B
B
Sylla
H
H
Grierson
H
H
Nitowsky
D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D005260:Female; D008040:Genetic Linkage; D006566:Herpesviridae Infections / Q000150:complications; D004854:Herpesvirus 4, Human; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000209:etiology / Q000235:genetics*; D008297:Male; D014960:X Chromosome