Klinefelter Syndrom = XXY (extra X chromosome in males.) Turner's Syndrome = X (only one X chromosome in females.) I have Turner's. I am really short and can't have children.
Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcemia. It is caused by a deletion of about 26 genes from the long arm of chromosome 7. It has an estimated prevalence of 1 in 7500 to 1 in 20,000…
Unique The Rare Chromosome Disorder Support Group
Unique - Rare Chromosome Disorder Group. This group has been invaluable for our family! Made our daughter's chromosomal anomaly less frightening to us. A definate for families affected by rare chromosome disorders.
Williams syndrome is a rare genetic disorder that affects a child's growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. This gene's protein product gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryonic development and childhood, when blood vessels are formed. Because they lack the elastin…
Prader-Willi syndrome: Caused by a deletion of seven genes on chromosome 15. Some characteristic of PWS include low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. This photo demonstrates the use of the FISH method in identifying the missing genes on chromosome 15.
Chromosome Disorder Outreach Inc | chromosome disorder info & support
Chromosome Disorder Outreach Inc a nonprofit organization supporting rare chromosome and single gene mutation disorders for over 28 years. Join us.
Unique children with rare chromosome disorders
This video has been made in support of all children and young people affected by a rarer chromosome disorder and Unique, the chromosome disorder network base...
Noah has Kleefstra Syndrome. A deletion on his 9th chromosome ( 9q34.3 deletion) It is a VERY rare genetic disorder & only 200 people in the world have it. Noah was diagnosed when he was just a week old. He is now 3 years old. He is non-verbal & non-mobile (uses a wheelchair). He also has global developmental delay, Ventricular septal defect, chronic constipation, Epilepsy, Chronic ear infections, Kidney reflex
Most common cause of familial hypercholesterolemia is called the same (IIa). Shows a bigger beta band on EP. Although eruptive xanthomas are a/w high TG, these xanthelesma are a/w high cholesterol (LDL). This disorder is due to an autosomal dominant deficiency in the LDL receptor (Chromosome 19, can't bind to Apo B100 on LDL).
Study could lead to a treatment for Angelman syndrome
Scientists say they have found a way to "awaken" the paternal allele of Ube3a, which could lead to a potential treatment strategy for Angelman syndrome -- a neurogenetic disorder often misdiagnosed as cerebral palsy or autism.
UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety ― but not intelligence ― is linked to poorer adaptive behaviors, including self-care and communication skills, that affect daily life.
Dr. Beverly Searle - Unique (Rare Chromosome Disorder Support Group)
Dr. Beverly Searle was a participant in the 5th European Conference on Rare Diseases (ECRD) Krakow, Poland 2010. She is CEO of Unique a Rare Chromosome Disor...
What Is Turner Syndrome? What Causes Turner Syndrome? Turner syndrome, also known as Turners syndrome, Ullrich-Turner syndrome or Gonadal dysgenesis, is a chromosomal disorder that affects only females. It is characterized by the absence of part or all of a second sex chromosome in some or all cells. Approximately 1 in every 2,500 to 3,000 girls is born with the condition.