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Genetic Disorder

For Science Class
by

Mr. Stack

on 10 March 2016

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Transcript of Genetic Disorder

A defect in the 22nd chromosome

Specifically a deletion of a small piece of the 22nd chromosome

Deletion occurred during meiosis or during early fetal development

Deletion is in the middle of the 22nd chromosome
The Inheritance of DiGeorge Syndrome

This pedigree shows the inheritance of the deletion syndrome and by analyzing this pedigree we know that this disease is dominant because it occurs in every generation

Karyotype of the Affected Chromosome
How Is It Genetically Caused
The Symptoms of Digeorge Syndrome

delayed development
learning disability
speech delay in a child
hearing loss
heart defects
frequent infections
low calcium
difficulty feeding
Failure to gain weight
Asthma like symptoms

Are there any treatments or cures?

There are no cures but there are treatments that can help balance affected people health. Treatment may includes:

Outside Symptoms/Facial Appearance of this disease
Description of this DiGeorge Syndrome
Having Future Children

Other names for DiGeorge Syndrome
Common name is Deletion Syndrome

22p deletion syndrome

CATCH22


DiGeorge Syndrome
By Shweta Swain


Causes poor developments of several body parts
heart defects
deformation of face
Critical health

This karyotype shows the affected 22nd chromosome, that causes this disease

low-set ears
cleft lip and cleft palate
hyperactivity
nasal voice
wide spaced eyes
Long face
Cardiovascular surgery, which is heart surgery

Plastic Surgery to get rid of unwanted facial feature

Vitamin D and Calcium supplement

There is a 50-50 chance of passing along a copy of chromosome 22 with that deletion

Person with this disease and a first child who did not inherit the disease has the same 50-50 risk with their second child

The results of previous pregnancies do not necessarily affect the next one

This video will give you a final view of what this disease is
It is genetic disease when you have a defected 22nd chromosome
Full transcript