A karyotype is the set of chromosomes in an individual analyzed from cells obtained through amniocentesis, a procedure used to obtain fetal cells from pregnant women over 35 or who previously had a child with chromosomal defects. A karyotype can determine the sex of an individual and identify chromosomal mutations like monosomy, trisomy, or deletions that can indicate disorders depending on the chromosome affected.

1. Karyotyping

2. What is a Karyotype?
A set of chromosomes.
 46 chromosomes in a human
karyotype (23 pairs).

3. Amniocentesis
 Method for
obtaining fetal
cells.
 Chromosomes
can be obtained
from cells.

4. When Should Amniocentesis
Be Done?
 This is a “risky” procedure.
 Should be performed on women
who:
a) Are in their mid 30’s or older.
b) Have had a previous child with
a chromosomal defect.

5. Chromosome Spread

6. Karyotype

7. Patient Name:

8. What can be determined
from looking at a karyotype?
1. Sex of the individual.
2. Chromosomal mutations (abberations)
a) Monosomy
b) Trisomy
c) Deletions
***Depending which chromosome has the
mutation, this determines the disorder…