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Genetic Abnormalities
Chromosomal abnormalities
Number – Aneuploidy
Structure
Mutation
Caused by chemicals, viruses and ionizing radiation
Results to tumors, cancers and other disorders
CHROMOSOMAL
ABNORMALITIES
Chromosomes
Coiled DNA – contain genetic information
Found primarily in nucleus
Autosomes and sex chromosomes
Chromosomes
Karyotype
Somatic cells
Cells
other than
gametes
46
Gametes
Sperm and egg cells
23
Eukaryotic Cell Division
Mitosis Meiosis
Somatic cells Gametes
One division Two divisions
2 genetically identical 4 genetically different
daughter cells daughter cells
2N (diploid) 1N (haploid)
Mitosis
Meiosis
Chromosomal Abnormalities
Occur when
chromosomes are
damaged or unevenly
distributed to cells:
During meiosis II, one
sperm gets 22
chromosomes while the
other 24.
If either fuses with an
egg cell, the resulting
zygote will have 45 or
47 chromosomes.
Chromosomal Abnormality Disorders
Trisomy 21
IQ between 25 to 50
Down Syndrome
Flat facial profile,
absence of the Moro
(startle) reflex, lack of
muscle tone,
hyperflexible joints,
shortened fifth finger
and square palm with
a single horizontal
crease
D Trisomy
47, XX, D+ or 47, XY,
D+
Trisomy 13
Trisomy 18
Testicular dysgenesis
Monosomy of the X
chromosome or
gonadal dysgenesis