Premium
Dicentric X‐isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis
Author(s) -
Cohen Maimon M.,
Rosenmann Ada,
HachamZadeh Shoshanah,
Dahan Sarah
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.tb01948.x
Subject(s) - dicentric chromosome , isochromosome , chromosomal inversion , gonadal dysgenesis , genetics , biology , abnormality , karyotype , chromosome , anatomy , medicine , gene , psychiatry
A patient with the clinical stigmata of gonadal dysgenesis is presented. Cytogenetic investigations revealed two distinct structural chromosome rearrangements. One of these, an isochromosome for the long arm of the X, proved to be a dicentric element following C‐banding. The second abnormality, an inherited familial marker, was a pericentric inversion of No. 2 {(inv 2) (p15) q21).