Premium
Familial transmission of a duplication‐deficiency X chromosome associated with partial Turner syndrome
Author(s) -
Aller V.,
Gargallo M.,
Abrisqueta J. A.
Publication year - 1995
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.1399-0004.1995.tb04117.x
Subject(s) - short stature , turner's syndrome , turner syndrome , x chromosome , genetics , gene duplication , chromosome , biology , karyotype , chromosomal inversion , endocrinology , gene
A rearranged X chromosome Xqter→q13::Xp11.4→qter was found in a mother and her two daughters, who were affected with short stature, cubitus valgus and hypothyroidism. The mother's menstrual cycles were normal until the age of premenopause. Similar previously reported cases are considered in an attempt to explain the possible origin of this X recombinant, fertility and clinical traits.