Development and Psychopathology. In this paper I focus on the causes of phenotypic variation among individuals with Turner syndrome, and between Turner syndrome females, normal females and normal males. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes.
What happen during meiosis that ultimately results in a defect characterized by the addition of chromosome? Spermatozoa have occasionally been identified in the seminal ejaculate in some patients with Klinefelter's syndrome Futterweit, Turner syndrome: a cytogenetic and molecular study.
Short stature due to SHOX deficiency: genotype, phenotype, and therapy. These biases contribute to the great variation of phenotypic and karyotypic differences.
Google Scholar. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia. Journal of Pediatric Psychology. The imprinted gene DLK1 represents a notable functional and positional candidate for such effects due to its roles in regulating growth, adiposity, and bone development Abdallah et al.
Survival of fetuses with 45,X: an instructive case and an hypothesis. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? We investigated whether molecular defects in the CYP21 gene were detectable in two common sex chromosome aberrations, the Turner and the Klinefelter syndromes.
Brain development in Turner syndrome: a magnetic resonance imaging study. Advanced search. Clinical significance of the parental origin of the X chromosome in turner syndrome.