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Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)
Author(s) -
Yanagisawa Satoshi,
Yokoyama Hiroshi
Publication year - 1975
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.1399-0004.1975.tb00332.x
Subject(s) - isochromosome , turner syndrome , turner's syndrome , x chromosome , girl , genetics , biology , karyotype , endocrinology , chromosome , gene
A girl is presented with “isochromosome” X mosaicism, 45, X/46, X, i(Xq)/47,X,i(Xq),i(Xq). The “isochromosome” had an unusual extra band close to the centromere on one arm. The patient had some signs of Turner's syndrome, myopia and optic nerve atrophy.