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Increased Q fluorescence of an inactive Xq— chromosome in man
Author(s) -
Sarto Gloria E.,
Therman Eeva,
Patau Klaus
Publication year - 1974
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.1399-0004.1974.tb02089.x
Subject(s) - centromere , chromosome , primary amenorrhea , biology , genetics , x chromosome , short stature , long arm , y chromosome , endocrinology , gene
The proposita's main characteristics were primary amenorrhea, lack of secondary sexual development, shortness of stature, and shield chest. Her 46 chromosomes included one normal X and an X chromosome with a partially deleted long arm. The abnormal chromosome was late labeling and formed a smaller than normal Barr body. It was almost always more brightly fluorescent than the normal X chromosome in the same cell, especially in the faintly fluorescent region around the centromere. The short arm of the abnormal chromosome was also significantly shorter than that of the normal X chromosome.