Cytogenetics

Prepared by: Rubylyn C. Villanueva BS MLS III-C

Lets Play First.

What is in the Picture?

He/They are Hunters

Hunter Syndrome
aka mucopolysaccharidosis Type II rare genetic disorder (X-linked recessive) that occurs when an enzyme iduronate-2-sulfatase (I2S) is either missing or malfunctioning. It is characterized by mental retardation, coarse features, hirsutism (abnormal hairiness), and characteristic appearance that includes a broad bridge of the nose and a large protruding tongue. appears in children as young as age 2. nearly occurs in males no cure

Hunter Syndrome
Symptoms: Dwarfism Abnormal facial features Enlarged liver and spleen Heart problems Deafness Urination of unusual metabolites (mild and severe forms)

Hunter Syndrome
Risk Factor:
 Family history
Hunter syndrome is caused by a defective chromosome, and a child must inherit the defective chromosome to develop the disease. It is what's known as an X-linked recessive disease. This means that women carry the defective disease-causing X chromosome and can pass it on, but aren't affected by the disease themselves.

 Sex
Hunter syndrome nearly always occurs in males. Girls are less at risk of developing this disease because they inherit two X chromosomes. If one of the X chromosomes is defective, their normal X chromosome can provide a functioning gene. If the X chromosome of a boy is defective, however, there isn't another normal X chromosome to compensate for the problem.

Hunter Syndrome
Complication:
Respiratory complications Cardiac complications Skeletal and connective tissue complications Brain and nervous system complications Longer recovery from other illnesses

Hunter Syndrome
Test and diagnosis
blood, urine or tissue sample tests
look for excess glycosaminoglycans in your child's urine or a deficiency of enzymes in your child's body fluids or cells.

genetic analysis
can confirm the diagnosis

chest X-ray
show irregularly shaped vertebrae and ribs

Prenatal testing
testing of the fluid that surrounds the baby (amniocentesis) or of a tissue sample from the placenta (chorionic villus sampling) can verify if your unborn child carries a copy of the defective gene or is affected with the disorder

Hunter Syndrome
Treatment:
Because there's no cure for Hunter syndrome, treatment focuses on managing signs, symptoms and complications to provide some relief for your child as the disease progresses.

Emerging treatments
Although there's no cure for Hunter or other MPS syndromes, some treatments that are in their early stages have had some success by slowing the disease's progress and lessening its severity. Bone marrow transplantation Enzyme therapy Gene therapy

Pictures

Broad bridge nose

Give extra love to those special child

End of Presentation

Thank You!!!

Reference:
Gardner, E. & Snustad, P. (1981). Principles of Genetics (6th Ed.). Newyork: John Willey & Sons, Inc. Lewis, R. (2008). Human Genetics: Concepts & Applications (8th Ed.). New York: McGraw-Hill Company Inc. http://edition.cnn.com/HEALTH/library/huntersyndrome/DS00790.html http://en.wikipedia.org/wiki/Hunter_syndrome