What was earmarked as the demise of 47XXY and other sex chromosome variations has hit a major snag and one it will undoubtedly find difficult to recover from. A heartbroken woman has launched a multi-million-dollar class action against one of…
Read More Class action launched against Monash IVF over non-invasive embryo testing
It should go without saying how precision medicine is paramount for XXY's especially given we are genotypical females and how standard pharmacology designed for males does not always adhere to the type of expected outcomes and in some instances not…
Read More Covid Has Proven The New Frontier of Medicine is Precision
The hypothalamus–pituitary–gonadal axis (HPG) during mini-puberty in boys with KS has been evaluated by several investigative groups and “all” possible results recorded: above normal, below normal or indistinguishable from normal (Aksglaede, Petersen, Main, Skakkebæk, & Juul, 2007; Lahlou, Fennoy, Ross,…
Read More Exogenous Testosterone is not a requirement of 47XXY’s at Mini and Pre‑Puberty
In 1949, Canadian anatomist Murray Barr announced the discovery of a peculiar entity in the cell nucleus that was present in females and absent in males. The identity of this entity remained uncertain for a decade even though Barr hypothesised…
Klinefelter syndrome (KS) is the one of the most frequent chromosomal disorder affecting 1/500–600 male newborns in the general population. The vast majority of the cases shows the 47,XXY karyotype, although mosaicism (46,XY/47,XXY) or higher-grade X aneuploidies can be rarely…
Read More Fertility Rates Among Non-Mosaic XXY; At Odds With Real Life Experience
Sex chromosome variations (SCV) are characterised by an atypical variation in the number or function of sex chromosomes. They are some of the most common genetic differences in human beings, and include 47 XXY; one in six hundred live births,…
Read More Cognitive and Neurological Aspects of Sex Chromosome Variations
https://www.youtube.com/watch?v=gcz1FOWw0Cg Confused with how chromosome numbers change in mitosis and meiosis? The Amoeba Sisters walk you through the mystery of chromosome and chromatid counting in mitosis and meiosis.
https://www.youtube.com/watch?v=zJbTdqiHdTQ The GEMINI project, or Genetics E learning for Medicine In Ireland aims to increase awareness of genetic conditions, genetic testing and diagnosis amongst healthcare professionals via educational presentations, videos and media and to assist in integrating tertiary genetics practice…
