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Langer‐Giedion syndrome with del 8 (q24.13‐q24.22)
Author(s) -
Okuno T.,
Inoue A.,
Asakura T.,
Nakao S.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03321.x
Subject(s) - short stature , long arm , chromosome , genetics , high resolution , karyotype , biology , turner syndrome , medicine , pediatrics , gene , remote sensing , geology
An 8‐year‐old boy with the features of Langer‐Giedion syndrome except for short stature is described. Chromosome analysis using high resolution G‐banding techniques revealed an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8)(q24.13‐q24.22).