Human Genetics

 

Chromosomal abnormalities visible in karyotype

Nondisjunction

Down syndrome = trisomy 21

Translocation

 

Abnormalities in sex chromosomes

Turner syndrome

XXX

Klinefelter syndrome

XYY

 

Autosomal recessive traits

Phenylketonuria

Tay-Sachs disease

Sickle-cell anemia

 

Here is something rare -- autosomal dominant allele causing fatal disease

Huntington's disease

 

Human Genome Project

 

X-chromosomal inactivation (= Lyonization)