X chromosome instability associated with familial Turner syndrome.
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.
Tyrkus
M
M
Department of Pathology, Wayne State University, Detroit, Michigan.
Hoffman
W H
WH
Kraemer-Flynn
K M
KM
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*