Karyotypes

What is a Karyotypes?

Snapshots of complete chromosome sets to identify potential genetic disorders

what is the purpose of a Karyotype?

To identify potential genetic disorders

Klinefelter Syndrome

• Condition related to the X and Y chromosomes

• Klinefelter syndrome relusts im one extra copy of the x chromosome in each cell (47, XXY)

Characteristics of Klinefelter Syndrome?

• taller than average, with long legs and short torso

• delayed purberty or absent puberty

• small testicles

• enlarged breast tissue

Down Syndrome (Trisomy 21)

• mental disability, due to an extra 21st chromosome

Characteristics of Down Syndrome (Trisomy 21)?

• short stature

• broad hands

• stubby fingers and toes

• wide rounded face

• a large protuding tounge that makes speech difficult

• mental disabilities

individuals with down syndrome have a high incidence of?

• respiratory infections

• heart defects

• leukemia

The average risk of having a child with Trisomy 21 is?

1/750 live births

The younger you are, the % decreses

The older you are, the % increases

Turner Syndrome (TS)

• occurs in girls and women

• complete or partial absence of the second sex chromosome (X)

TS Occurs in?

approximately 1 of every 2,000 live female births

and approximately 10% of all miscrages

Traits and Characteristics of Turner Syndrome (TS)?

• medical and development problems

• Short height

• faliure of the ovaries to develop

• heart defects