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? 23

How many chromosomes come from your Mother? 23

What are chromosome pairs 1-22 called? Autosomes

What is chromosome pair 23 called? 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 OVER
KARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES
Trisomy 21 = Down’s Syndrome
#2
#1
XO = Turner’s Syndrome
FLIP PAPER OVER
KARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES
Trisomy 18 = Edward’s Syndrome
#4
#3
XXY = Kleinfelter’s Syndrome
FLIP PAPER OVER
KARYOTYPE 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
(husband and wife)
Siblings
(brothers and sister)
Carrier
HOW TO READ PEDIGREES?
How many generations are shown? 3
 How many affected people are there? 7
 How many affected people are female? 4
 How many affected people are male? 3

SEX-LINKED RECESSIVE PEDIGREE

All carriers are female. Most affected are male.
Answer last question
on right hand side.