Premium
Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea
Author(s) -
Ponzio G.,
Chiodo F.,
Messina M.,
Surico N.,
Libanori E.,
Folpini E.,
Porcelli A.,
Marchese C.
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.tb03317.x
Subject(s) - primary amenorrhea , amenorrhea , karyotype , breakpoint , x chromosome , biology , chromosome , phenotype , secondary sex characteristic , y chromosome , gonadal dysgenesis , genetics , endocrinology , pregnancy , gene , hormone
An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints is discussed.