genetics

Keeping it real

Exogenous Testosterone is not a requirement of 47XXY’s at Mini and Pre‑Puberty

by onevoice47xxy17/05/202027/07/2020

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,…

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Diagnosing Sex Chromatin: A Binary for Every Cell

by onevoice47xxy12/05/202004/08/20202 Comments

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…

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Fertility Rates Among Non-Mosaic XXY; At Odds With Real Life Experience

by onevoice47xxy05/02/202020/03/2020

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…

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Cognitive and Neurological Aspects of Sex Chromosome Variations

by onevoice47xxy03/02/202029/07/2020

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,…

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Chromosome Numbers During Cell Division

by onevoice47xxy25/01/202004/03/2020

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.

How To Draw a Family Tree

by onevoice47xxy25/01/202026/01/2020

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…

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Reach Out is Australia’s leading online mental health organisation for young people and their parents. Our practical support, tools and tips help young people get through anything from everyday issues to tough times – and the information we offer parents makes it easier for them to help their teenagers, too.

YOUth & I seeks to encourage young intersex people to share their own stories, short essays, reflections, poems, cartoons, drawings – really, anything that can be printed! We want to hear from intersex young people everywhere about their experiences, hopes, fears and dreams.

Re-imagine Today is co-designed with people living with mental health issues. Many of those involved have lived experience of the NDIS and have used this experience to help you better understand how it all works

Intersex Peer Support Australia is a peer support, information and advocacy group for people born with variations in sex characteristics and their families.

Intersex Head To Health is a digital Mental Health resource by the Australian Government connecting you with some of Australia’s most trusted Mental Health organisations. It brings together apps, online programs, online forums, and phone services, as well as a range of digital information resources.

Parents of Gender Diverse Children provides peer support to Parents and those parenting Trans and Gender Diverse children. They realise that parents who are well supported are better able to support their children.

Intersex Human Rights Australia promote human rights, health and bodily autonomy. Their goals are to help create a society where intersex bodies are not stigmatised, and where our rights as people are recognised. They build community, evidence, capacity, and education and information resources.

Kids Helpline is Australia’s only free, private and confidential 24/7 phone and online counselling service for young people aged 5 – 25

The Pinnacle Foundation provides multi-year educational scholarships and mentoring support to young adults (between the ages of 17 and 26) across Australia where their sex characteristics have prevented or hindered the achievement of their career aspirations or personal development. Scholarships include a case component and support from a mentor.

Flourish Australia: Being part of the Flourish Australia family is a great way to make new friends, try new things and get more involved with your local community. Connect with us to start feeling less isolated.

Rape and Domestic Violence Services Australia We provide nationwide counselling and support for people impacted by domestic and family violence.

46 XX(y) Phenotypically there are three groups of sex-reversed 46,XX individuals. The first classical group includes phenotypically normal XX males, while the second and third groups consist of those with varying forms of genital ambiguity.

48 XXYY is a chromosomal variation that causes infertility, developmental and behavioural issues, as well as other health problems

48,XXXY often compared with 47,XXY because of shared features including tall stature and hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY are associated with additional physical findings, congenital differences, medical problems and psychological features.

Musculoskeletal Differences Among XXXXY Data was collected from an international cohort of XXXXY’s over 10 years indicating the necessity for comprehensive multidisciplinary treatment.

Diversitywise Educational Services provides curriculum, pedagogy and professional development services to early learning centres and schools.

Speech & Language Development Australia is the nation’s peak body supporting and advocating for the needs of children and young people with speech, language and related differences.

A Podcast Initiative by The National Consistent Collection of Data on School Students with Disability, to assist in learning more about development issues

Brain Facts dot Org
shares the stories of scientific discovery and the knowledge they reveal. Join them as they explore the universe between our ears. Because when we know our brains, we know ourselves.

Executive dysfunction and relation with behavioral problems .These findings suggest that executive dysfunction may be part of the phenotype of children with an extra X chromosome, impacting the ability to function adequately in everyday life.