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Whole‐arm t (X;17) (Xp17q;Xq17p) and gonadal dysgenesis
Author(s) -
Rivera H.,
EníuquezGuerra M. A.,
ROLÓN A.,
JIMÉNEZSÁINZ M. E.,
NúñezGonzalez L.,
Cantú J. M.
Publication year - 1986
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.1399-0004.1986.tb00515.x
Subject(s) - gonadal dysgenesis , dysgenesis , turner syndrome , anatomy , medicine , endocrinology , biology , genetics
A 19‐year‐old female patient with gonadal dysgenesis and a de novo t(X;17) (Xp17q;Xq17p) is described. Since the critical segment Xq13 → q26 was intact, this case is a further exception to the critical region hypothesis.