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X chromosome instability associated with familial Turner syndrome
Author(s) -
Tyrkus M.,
Hoffman W. H.,
KraemerFlynn K. M.
Publication year - 1989
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.1399-0004.1989.tb02914.x
Subject(s) - genetics , turner syndrome , biology , chromosome , x chromosome , karyotype , phenotype , chromosome instability , endocrinology , gene
A family with two members (two generations) exhibiting Turner syndrome is described. Cytogenetic studies on these individuals showed the presence of multiple X chromosome changes. Evidence is presented to show that the maternally inherited X chromosome is the chromosome involved in the structural alterations observed. The effect of a tendency of the maternal X chromosome to break at specific sites on the development of the Turner phenotype and abnormal karyology is discussed.