作者: Bernard Crespi
DOI: 10.1111/J.1752-4571.2008.00017.X
关键词:
摘要: Turner syndrome is caused by loss of all or part an X chromosome in females. A series recent studies has characterized phenotypic differences between females retaining the intact maternally inherited versus paternally chromosome, which have been interpreted as evidence for effects X-linked imprinted genes. In this study I demonstrate that with a maternal and paternal broadly parallel males normal large suite traits, including lipid profile visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart kidney malformations, neuroanatomy (sizes cerebellum, hippocampus, caudate nuclei superior temporal gyrus), aspects cognition. This pattern indicates diverse human sex are mediated genes, via genomic imprinting such higher rates mosaicism origin, karyotypic some combination these phenomena. Determining relative contributions imprinting, karyotype variation phenotypes important implications both clinical treatment individuals syndrome, hypotheses evolution development sexual dimorphism.