Di george syndrome

DIGEORGE SYNDROME

Hensley, Sean7th

2-11-14

Name of Disorder

DiGeorge Syndrome

Who/What group are at greatest risk for disorder.

DiGeorge usually is caused when people have the following. Hyperparathyroidism – It causes there to be

too much thyroid hormones in the blood. Thyroid hormones also causes body functions to speed up by about 1 percent of.

Contronucal heart defects – does not allow transportation through the arteries.

cleft lip and/or palate – Causes abnormal facial expressions.

Person with DiGeorge Syndrome

Symptoms and/or the physical effect of the disorder.

The skin tends to have a bluish tone due to poor circulation of the oxygen abundant blood

Children with DiGeorge syndrome fail to add weight

Weakness and easy fatigue is observed Incapacity to flourish The muscle mass or muscle tone is poor One may notice spasms or tremors affecting

the hands, arms or areas around the throat and/or the mouth

A cause of DiGeorge Mutation

The cause of DiGeorge is a chromosome 22, which results a bad development several body parts.

Explanation of the specific mutation that causes the disorder

Chromosomal deletion Part of the Chromosome is deleted 3 million nucleotides missing

Explanation of how mutation alters specific proteins in the body and the effect of these

changes. With the loss of the gene it causes a

mutation causing a behavior change. Changes the amino acids in mRNA. It can either be point, frame shift.

Point Nonsense – Does not cause change Missense – Changes amino acid Silence – Causes stop

Frame shift Delete nucleotide Add nucleotide

Karyotype of an individual with the disorder with the affected chromosome

The light band is missing from the right side of chromosome 22. You can see the 22 next to the left of the sex cell (xx) (usually girl)

Punnett squareAutosomal dominant

Ratios

Phenotypic Ratio 2 have it:2 do not have it (50%,50%) Genotypic Ration 0:2 have it:2 do not have it

(0%,50%,50%)

Pedigree chart and explanation of mode of inheritance

The inheritance mainly affects both equally, and it gets passed down almost twice per generation.

Autosomal dominant affects every generation and affects mostly men and women equally, and happens about two times per generation.