48 XXYY Syndrome
48 XXYY is a chromosome anomaly that affects a very small percentage of boys globally and whilst our counterparts in the US have been studying this for a number of years and have amassed a substantial body of knowledge on the condition, leading the medical and social studies, in the UK the condition is relatively unknown, un-diagnosed and most importantly unsupported. We hope to change all that or at least bring hope to those at the beginning of their journey.
Boys normally have 46 chromosomes in each of their cells, but boys with 48 XXYY syndrome have an extra X and and an extra Y chromosome, one from their mother, one from their father, so they have 48 chromosomes. The main effect of this is to disrupt male sexual development.
This condition affects 1 in 18,000 to 50,000 boys. Each child has a different range of the symptoms listed below. Many of these symptoms first start to appear in adolescence. Boys might be misdiagnosed with conditions such as autistic, bi-polar disorder or Fragile X syndrome. Some boys might display some of the following symptoms and not have 48 XXYY at all.
Physical symptoms include tall stature for their age, hand tremor, leg ulcers, elbow abnormalities, curvature of the little finger (known as ‘clindactyly’), stretchy joints (known as ‘hyper-mobility’), curvature of the spine (known as ‘scoliosis’), significant dental problems, flat feet, low muscle tone, low or no testosterone. Young children might to slow to crawl or walk or have difficulty picking things up.
Neurological and mental symptoms include developmental delays, speech impairment, behavioural issues, social communication disorders, anxiety disorders, depression, learning disability, infertility, mood swings and outbursts and autism spectrum disorders.
A geneticist will use a High Resolution Chromosome test for 48 XXYY and there is no cure but medication and therapies can be used to reduce the effects of symptoms.
This condition is not inherited. It usually occurs randomly during the formation of reproductive cells (eggs and sperm).
Help raise funds for XXYY UK. This will help us subsidise trips, family retreats, bringing medical professionals to UK and much more for our XXYY Boys.