Together raising awareness, to support Research and provide support
Chromosome Structure XY & Variations
Chromosome Structure XY & Variations @ 2017
A parent of a 10 year old with XXY and founder, Emily is also a Business Analyst and found a need to find and translate technical information from medical specialists, to Patients, parents and partners with a diagnosis of an XY Chromosome Variation. Emily has a focus on creating a unified approach with the community, from the GP, to School awareness and education, as well as Universities and Hospitals having a collaborative relationship with Support Groups in this field.
What causes Chromosome Variations?
Chromosome Variations are caused usually at conception. by a problem in the division of the X and Y chromosomes during the formation of a parent’s egg or the sperm.
The exact cause is unknown, and these conditions are typically not inherited. Effects of these conditions range from mild to disabling. The most common and familiar is 47,XXY and the associated symptoms known as Klinefelter Syndrome. It involves at least one extra X chromosome in addition to a Y chromosome such that there is a total of 47 or more chromosomes rather than usual 46.
Unfortunately Infertility is the most common symptom which is why Klinefelter syndrome may first be diagnosed when a man comes to the doctor because of infertility.
For younger diagnosis, most symptoms can be addressed successfully, with appropriate treatments such as speech and occupational therapy.
Candice specializes in Early Childhood Education and Care sector, Co-manages several early learning centres, providing leadership and mentoring over 200 educators, who are responsible for the care and education for over 600 children daily. Candice is extremely passionate about not only a proactive approach through early diagnosis, but also raising awareness and providing professional development to all Educators across the early learning spectrum, which will directly attribute to adaptive skills for children when transitioning into the school environment, through effective early intervention programs which are an important first step for children with developmental concerns. Candice strongly believes in individualised early interventions to provide the best opportunities for children achieving their potential.
Monitoring of bone-density and hormone-level monitoring as well as Educators being on the lookout for learning disabilities. XXY individuals may need emotional support and counselling, especially during puberty. Those who wish to have children can often be helped with reproductive technologies.
Chromosome Structure XY & Variations, such as XXY, associated symptoms may include being Tall, small Testes, as well as symptoms that may fall into these main categories:
Language and Learning Symptoms
Social and Behavioral Symptoms