KARYOTYPE

KARYOTYPE Picture of chromosomes from Prophase Purpose: analyzing of chromosomes for abnormalities

Answer first question on right hand side.

NORMAL FEMALE

NORMAL MALE

TERMS TO KNOW Autosomes – chromosomes 1-22 Sex chromosome – chromosome 23

Monosomy - missing a chromosome (2n-1) Trisomy - one extra chromosome (2n+1) Nondisjunction - when chromosomes fail to separate properly

Answer questions on right hand side.

LET’S REVIEW….

How many chromosomes come from your Father?

How many chromosomes come from your Mother?

What are chromosome pairs 1-22 called?

What is chromosome pair 23 called?

23

23

Autosomes

Sex chromosome

TURNER’S SYNDROME Missing a X chromosome on 23rd chromosome Causes underdeveloped ovaries, short stature, webbed, and

only found in women. Bull neck and broad chest. Individuals are sterile and lack

expected secondary sexual characteristics. Mentally handicapped typically not evident.

KLEINFELTER’S SYNDROME(OR KLINEFLETER’S)

Caused by nondisjunction of the X chromosome on 23rd chromosome (XXY, XXYY)

Males with some development of breast tissue Individuals have little body hair, typically tall, and have small

testes. Infertility results from absent sperm. Mentally handicapped may or may not be present.

DOWN’S SYNDROME Caused by non-disjunction of the 21st chromosome. The individual has a trisomy 21.

THE VERY TRAGIC DISEASE… HAIRY EARS

Y-linked trait, which is extremely rare. Symptoms… hairy ears

Only 1 cure known….

FLIP PAPER OVERKARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES

Trisomy 21 = Down’s Syndrome

XO = Turner’s Syndrome

#1

#2

FLIP PAPER OVERKARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES

Trisomy 18 = Edward’s Syndrome

XXY = Kleinfelter’s Syndrome

#3

#4

FLIP PAPER OVERKARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES

Trisomy 13 = Patau Syndrome

#5

PEDIGREE

PEDIGREE Diagram that shows how a trait is passed from generation to

generation

Key: Female (normal) Female (has the trait)

Male (normal) Male (has the trait)

Married Married

Siblings Carrier (husband and wife)

(brothers and sister)

HOW TO READ PEDIGREES?

How many generations are shown? How many affected people are there? How many affected people are female? How many affected people are male?

37

43

SEX-LINKED RECESSIVE PEDIGREE

All carriers are female. Most affected are male.

Answer last question on right hand side.