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Monosomy 9P

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by

Gabrielle Land

on 5 March 2014

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Transcript of Monosomy 9P

Monosomy 9P
By: Gabrielle Land
Also known as Alfi's Syndrome or 9P Minus
What causes this disorder?
This disease is caused by nondisjunction
What gene or chromosome is affected by this disorder?
Deletion of the chromosome 9
What are the symptoms?
Mental retardation
Temper Tantrums
Speech landguage delay
Sleep disorders
Nystagmus (abnormal eye movements)
Seizures
What population is affected?
Its a very rare with an estimated 125 people with this condition in the U.S.
Happens in 1 in 50,000 births
Both in male and female
Can anyone be a canidate for the disorder?
How is it inherited
This disease is recessive
What kind of medical assitance will the affected child need?
Assistance with activties of daily living beyond the age of 18
Are there any treatments or cures?
Thre is no cure for Monosomy 9P, but there are many therapies and medical treatments avalible.
Could this disorder have been prevented?
It cannot be prevented because it begins in the fetal growth process and has no identifiable cause
Are there prenatal tests for this disorder?
No there are no prental test because it is so rare
Can this individual have children in the future?
Will those children be affected?
Yes, and no.
These people can have children, however there is a 35% to 50% child will have the syndrome
What is the current status of this disorder?
There is barely any research on this disorder because only a handful of people have it.
Karyotype
Pedigree
Full transcript