1. Karyotypes & Disease

2. Human Genetics & Disease
POLYGENIC 1
(in the amniotic fluid!)
NEEDLE
FETAL
IMAGE
DETERMINE

3. GENETIC DISORDERS BLOOD SEX-LINKED RECCESIVE DEATH XnXn or XnY BRAIN
AUTOSOMAL DOMINANT
BRAIN
NN or Nn
PROTEIN
AUTOSOMAL RECCESIVE
MENTAL
PHYSICAL nn
AUTOSOMAL RECCESIVE
CURABLE with DIET!!! nn

4. SICKLE
AUTOSOMAL RECCESIVE
STICKY nn
OXYGEN 1
NON-DISJUNCTION
INFERTILE
X_ or X0
EXTRA
PHYSICALLY
NON-DISJUNCTION
3 on #21
CURED
DETECTED X
NON-DISJUNCTION
INFERTILE
XXY
LANGUAGE
PROTEIN
AUTOSOMAL RECCESIVE
STICKY nn
DEATH

5. Genetic Disorders Video Clips
Sickle Cell Anemia: 
Huntington's Disease: 
TaySach's Disease: 
PKU: 
Hemophelia:
Turners:
Klinefelters:
Downs:
Cystic Fibrosis: 

6. KARYOTYPES
CHROMOSOMES
HOMOLOGOUS CHROMOSOME 44 2

7. Common Chromosomal Disorders (can be detected on Karyotype!)
Too many chromosomes
XXY
Extra X chromosome
Genetically MALE because of the Y chromosome
X_ or X0
Too few chromosomes – missing 2nd X
Genetically FEMALE
Full set of male chromosomes (XY) AND full set of female chromosomes (XX)
XXXY
Too many chromosomes
3 on #21
Extra chromosome on #21
ALL caused by NON-DISJUNCTION of chromosomes

8. So, what does this look like…
Kleinfelter’s Syndrome
(Male)
Normal
Female
Normal
Male
Turner’s Syndrome
(Female)
Down’s Syndrome

9. How to read a Karyotype…
SEX/GENDER
FEMALE XX
MALE XY
PAIRS/INDIVIDUAL
HEMAPHRODITE
YES
#21 and Sex Chromosomes NO