1. Human Female Karyotype
Karyotypes
Human Female Karyotype
Autosomes
Sex Chromosomes
Autosomes
Sex Chromosomes
Notation:
46,XY
Notation:
46,XX
Diagnosis: Normal male
Diagnosis: Normal female

2. Analyzing Karyotypes
A karyotype displays a diploid number of chromosomes.

3. Chromosomal disorders Nondisjucntion – means “not coming apart”;
Nondisjucntion – means “not coming apart”;
- when homologous chromosomes fail to separate, abnormal chromosome numbers may find their way into gametes
Monosomy – missing one chromosome from a pair
Trisomy – having three copies of a chromosome
Exp. Trisomy 21 – extra chromosome-21

4. No male Trisomy 21 Nondisjunction 47, XY, +21
Does this person have a normal # of chromosomes? Is this person a male or a female? What condition does this person have? What was it caused by? What notation would you use to characterize this patient’s karyotype? No
male
Trisomy 21
(Down Syndrome)
Nondisjunction
47, XY, +21

5. Common Non-disjunction Disorders
Down’s Syndrome – Trisomy 21
Turner’s Syndrome – Monosomy 23 (X)
Kleinfelter’s Syndrome – Trisomy 23 (XXY)
Edward’s Syndrome – Trisomy 18

6. Amniocentesis a procedure a pregnant woman
can have in order to detect some
genetics disorders…such as
non-disjunction.
Amniotic fluid withdrawn

7. Now, you are going to pretend to be a geneticist and diagnose patients by looking at karyotypes.

8. What is the sex of this patient?
Practice:
What is the sex of this patient?
What notation would you give this patient?
What diagnosis would you give this patient?
Female (Why? No Y chromosome)
45, XO
Monosomy 23

9. How are Karyotypes made?