1. What happens if the number of chromosomes is not 46 in a human being?
To what extent can genetics influence who you end up being?

2. Number or Structure

3.  Not all chromosomal abnormalities are compatible with life.
 Those abnormalities that are compatible with life, cause signs symptoms in the
individuals that suffer them.
 The group of signs and symptoms related to a known genetic disorder is named as
a Syndrome.

4.  The chromosomal anomalies maybe in number or in structure.
 Numerical Abnormality: an abnormal number of chromosomes.
 When an individual is missing either a chromosome from a pair (monosomy) or has more than
two chromosomes of a pair (trisomy)
 Structural Abnormality: when the structure of the chromosome is changed.
 Deletions
 Duplications
 Translocations
 Inversions
 Rigns
Source: National Human Genome Research Institute

5.  Why do they happen?
 Errors in cell division (mitosis or meiosis)
 Monosomy:
 X  Turner Syndrome 45, XO
 Trisomy:
 21  Down Syndrome 47,XX or XY, +21
 18  Edwards Syndrome 47, XX or XY ,+18
 13  Patau Syndrome 47, XX or XY, +13
 XXY  Klinefelter Syndrome 47,XY,+X
 XXX  Triple X Syndrome 47,XX, +X

6.  Deletions
 Duplications
 Translocations
 Inversions
 Rings

7. Amniocentesis
Karyotyping
Have fetus DNA

8.  Male or female?
 Chromosome number:
 Abnormality?
 Numerical or Structural?
 What type?

9.  Male or female?
 Chromosome number:
 Abnormality?
 Numerical or Structural?
 What type?

10.  Male or female?
 Chromosome number:
 Abnormality?
 Numerical or Structural?
 What type?
Source: Indian Journal of Human Genetics

11. Linda Hunt: 45,XO

12. In groups of 4
Time: 40 min.

13.  You are given a set of chromosomes extracted from a human cell in metaphase.
 You must first make the karyotype, by cutting and organizing the chromosomes
with the help of an ideogram.
 With the finished karyotype: Diagnose
 Make a short presentation (1 or 2 slides) of your diagnosis. Support your
information with scientific facts.
 Chromosome number
 Gender of the individual
 Chromosomal abnormality? Healthy?
 Type of chromosomal abnormality?
 Main signs and symptoms
 Frequency in the Spanish population
Ideogram
Set of chromosomes
Karyotype template