DiGeorge syndrome is caused by a deletion on chromosome 22 which disrupts normal development. It is characterized by hyperparathyroidism which causes high thyroid hormones, congenital heart defects which impair blood flow, and cleft lip and/or palate. Other symptoms include poor circulation seen as a bluish skin tone, failure to gain weight, weakness, and muscle issues. The genetic mutation is usually a deletion of part of chromosome 22, removing around 3 million nucleotides and genes. This deletion leads to changes in mRNA and proteins that alter cellular functions. DiGeorge syndrome has a 50% chance of being inherited and affecting each generation.

1. Hensley, Sean
7th
2-11-14

2.  DiGeorge Syndrome

3.  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.

5.  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

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

7.  Chromosomal deletion
 Part of the Chromosome is deleted
 3 million nucleotides missing

8.  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

9.  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)

11.  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%)

12.  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.