Keyword Analysis & Research: refsum disease

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What does Refsum disease, infantile mean?

Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies.

What is SS disease?

Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.

Is there any syndrome that is similar to Down syndrome?

Familial Down syndrome is similar to primary Down syndrome in that it is caused by trisomy 21. However, in familial Down syndrome, all or part of the third copy of chromosome 21 has translocated onto another autosome, typically chromosome 14.

Is Klinefelter syndrome a chromosome disorder?

Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome. Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child.

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