Premium
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome
Author(s) -
JACOBS P. A.,
BETTS P. R.,
COCKWELL A. E.,
CROLLA J. A.,
MACKENZIE M. J.,
ROBINSON D. O.,
YOUINGS S. A.
Publication year - 1990
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1990.tb00379.x
Subject(s) - autosome , turner syndrome , biology , x chromosome , genetics , karyotype , chromosome , meiosis , ploidy , cytogenetics , endocrinology , gene
SUMMARY The results of a cytogenetic and molecular reinvestigation of a series of 52 patients with Turner's syndrome are reported. No evidence of Y chromosome material was found among the patients with a 45, X constitution but two patients were found to have a cell line with a r(Y) chromosome which was previously thought to be a r(X). The parental origin of the single X in the 45, X patients was maternal in 69% and paternal in 31%, a similar ratio to that seen among spontaneously aborted 45, X conceptuses. This suggests that X‐chromosome imprinting is not responsible for the two grossly different phenotypes associated with a 45, X chromosome constitution. Approximately half of the structurally abnormal X chromosomes were maternal in origin and half paternal. This observation is consistent with either a meiotic or post‐zygotic mitotic origin and at variance with the predominantly paternal origin reported for autosome structural abnormalities.