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Turner's syndrome with a duplication‐deficiency X chromosome derived from a maternal pericentric inversion X chromosome
Author(s) -
Maeda Tohru,
Ohno Michiko,
Takada Masumi,
Nishida Masato,
Tsukioka Kazuko,
Tomjta Hajime
Publication year - 1979
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.1399-0004.1979.tb00977.x
Subject(s) - chromosomal inversion , x chromosome , gene duplication , genetics , biology , x inactivation , dup , short stature , karyotype , chromosome 9 , chromosome , chromosome 22 , microbiology and biotechnology , gene , endocrinology
A 31‐year‐old woman of short stature with severe oligomenorrhea was found to carry a duplication‐deficiency X chromosome, 46, X, rec(X)dup q, inv(X)(p22qll), inherited from her mother who carried a pericentric inversion X chromosome, 46, X, inv(X)(p22qll). By a combination of autoradiography and BUdR incorporation, the duplication‐deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.