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.