GENETIC ABNORMALITIES

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
 Somatic cells
 One division
 2 genetically identical
daughter cells
 2N (diploid)
Meiosis
 Gametes
 Two divisions
 4 genetically different
daughter cells
 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

Autosome Sex Chromosome

 Down Syndrome  Klinefelter’s Syndrome
 D Trisomy (13)  Double Y (XYY) Males
 E Trisomy (18)  Turner's Syndrome
 “Le cri du chat” (Cat-  Multi-X Females
cry) Syndrome
AUTOSOME
ABNORMALITIES
Down Syndrome
 47, XX, 21+ or 47,
XY, 21+

 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

 Infants die within a

few months.
D Trisomy
 Patients with this
condition have
arhinencephaly
(failure of the
embryo's forebrain to
develop) and other
birth defects (e.g.,
cleft palate,
polydactyly and eye
abnormalities).
E Trisomy
 47, XX, E+ or 47, XY,
E+

 Trisomy 18

 Individuals die in three

to four months.
E Trisomy
 Infants are mentally
retarded and
experience cardiac,
intestinal and renal
defects.
“Le cri du chat” (Cat-cry) Syndrome
 46, XX, Bp- or 46, XY,
Bp-.

 Syndrome results from

deletion of the p arms
of chromosome 5 (B
group).
“Le cri du chat” (Cat-cry) Syndrome
 Infants exhibit
characteristic cries
which sound like
mewing of a cat.

 Many infants die but a

small percentage
survive up to
adulthood.
SEX CHROMOSOME
ABNORMALITIES
Klinefelter’s Syndrome
 47, XXY

 Testicular dysgenesis

 Small testes and

prostate, reduced
facial and body hair,
gynecomastia and an
elongated body
Double Y (XYY) Males
 47, XYY

 Over 6 feet tall but otherwise phenotypically

normal
Turner's Syndrome
 45, X

 Monosomy of the X
chromosome or
gonadal dysgenesis

 Short females with

primary amenorrhea
Multi-X Females
 47, XXX; 48, XXXX or 49, XXXXX

 Most individuals are phenotypically normal,

however some are mentally retarded and
experience menstrual irregularities.
MUTATIONS
Mutations
 Change in the usual
DNA sequence
(genetic code) resulting
in the production of a
different protein.
Mutations
 Point mutations
 Transitions and transversions
 Silent, mis-sense and nonsense
Mutations
 Frameshift mutations
 Insertion
 Deletion
FIN