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Chromosome Structure XY & Variations

 

Chromosome Structure XY & Variations @ 2017

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To help your son cope with Klinefelter syndrome and promote healthy mental, physical, emotional and social development: 

- Monitor your son's development carefully and seek help for problems you notice, such as trouble with speech or language. 
- Encourage participation in sports and physical activities that will help build muscle strength and motor skills. 
- Encourage your son to be independent. Be supportive, and provide a home environment with lots of positive feedback and encouragement. 
- Cooperate closely with your son's school. Teachers, school counselors and administrators who understand your son's needs can make a big difference. 
- Learn what support is available, such as special education services. 
- Connect with other parents. Klinefelter syndrome is a common condition, and you, your son and your family are not alone. A number of Internet resources and support          groups may help answer your questions and ease concerns.
- Work closely with your doctor. Appropriate treatment can help you maintain physical and mental health and prevent problems later in life, such as osteoporosis. 
- Investigate your options for planning a family. You and your partner may want to talk to a doctor or other health professional about your options. 
- Talk with others who have the condition. There are a number of resources that provide information about Klinefelter syndrome and perspectives of other men and their partners who cope with the condition. Many men also find it helpful to join a support group.

How is 47,XXY diagnosed?

XXY can be diagnosed with a specialised blood test, called karyotyping (a karyotype), and/or a microarray analysis is performed to look for chromosomal abnormalities. Any GP's, physicians, and geneticists, can order genetic testing when a chromosomal or genetic condition is suspected or needs to be ruled out.

Some pregnant women who have specific risk factors or have other concerns regarding possible genetic conditions have invasive prenatal testing during pregnancy. 

All research evidence supports that early intervention makes a significant difference for children with chromosome variations. 
Getting the news that you have a chromosome variation can be confronting and

Most of our amazing kids won’t have the same condition, but amazingly enough they tend to go through some very similar problems. Some children are still very young and only just starting on their journey, and the older children and Adults can help guide the way through support and experiences.


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