Something about Genetic Defects?

Question

Could anybody give me some well known genetic defects a human can have? Is it the same with genetic disorders?

Answer 1

The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved.

P - Point mutation, or any insertion/deletion entirely inside one gene

D - Deletion of a gene or genes

C - Whole chromosome extra, missing, or both - see chromosomal aberrations

T - Trinucleotide repeat disorders - gene is extended in length

More common disorders

Disorder Mutation Chromosome

22q11.2 deletion syndrome D 22q

Angelman syndrome DCP 15

Canavan disease  17p

Celiac disease  

Charcot-Marie-Tooth disease  

Color blindness P X

Cri du Chat D 5

Cystic fibrosis P 7q

Down syndrome C 21

Duchenne muscular dystrophy D Xp

Haemophilia P X

Klinefelter syndrome C X

Neurofibromatosis  17q/22q/?

Phenylketonuria P 12q

Prader-Willi syndrome DC 15

Sickle-cell disease P 11p

Tay-Sachs disease P 15

Turner syndrome C X