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(Autosomal)
Clinical Biochemistry, University of Tabuk.
Dr. Ashraf
Includes:
The new treatment involves removing immune cells called T cells from
a patient’s blood and giving them a gene for a protein called a
chimeric antigen receptor, or CAR, that directs the T cells to target
leukemia cells.
The modified cells are then transfused back.
Structural.
Translocation
Deletion
Others
• They are a very common cause of early spontaneous miscarriage.
• Usually, but not always, cause multiple congenital anomalies and
learning difficulties.
Numerical Aberration
• Autosomal
- Trisomies: 1 ch extra (e.g. trisomy 21-13-18)
- Monosomies: 1 ch is missing
• Sex chromosome
- Klinefilter syndrome (47, XXY male)
- Turner syndrome (45, XO female)
Karyotype of a normal male
Karyotype of a normal female
Karyotype of a normal male
Overlapping of the fingers in
Edwards' syndrome
Structural abnormalities
1) Translocation :
the transfer of a chromosome or a segment of it to a
non-homologous chromosome.
2) Deletion : loss of a portion of a chromosome.
3) Ring chromosome
4) Duplication : extra piece of a chromosome.
5) Inversion : fragmentation of a chromosome followed
by reconstitution with a section inverted.
6) Isochromosomes : division of chromosome at
centromere transversely instead of longitudinally
Structural abnormalities
Structural abnormalities
Structural abnormalities
Structural Abnormalities
Inversion
Deletion Duplication
Structural Abnormalities
Isochromosome
Ring chromosome
Reciprocal translocations
• An exchange of material between two different chromosomes is called a
reciprocal translocation. When this exchange involves no loss or gain of
chromosomal material, the translocation is 'balanced' and has no
phenotypic effect.
• Balanced reciprocal translocations are relatively common, occurring in 1 in
500 of the general population.
• Finding a balanced translocation in one parent indicates a recurrence risk
for future pregnancies and antenatal diagnosis by chorionic villus sampling
or amniocentesis should be offered as well as testing of relatives.
Structural abnormalities
Robertsonian Translocation
Reciprocal Translocation
Reciprocal Translocation
Robertsonian Translocation
Deletion syndromes
When to suspect chromosomal
abnormalities?
• Abnormal features
* coarse facies * Mongoloid eye
* Low set ears * Micrognathia/cleft lip & palate
* Simian crease * Clinodactyly
• Mental retardation Do chromosomal analysis
• Ambiguous genitalia Do chromosomal analysis
• Delayed puberty:
Klinefelter syndrome and Turner syndrome
Low set Ears
Clinodactyly
Genetic types (Cytogenetics)
(1) Non-disjunction : “ 95 % of cases”
• It is due to failure of disjunction of the 2
chromosomes of the pair No 21 during division, the
extra 21 chromosome is separate and so total no. in
cell is 47.
• Incidence is higher with increasing maternal age & so
it is age-dependent
Non-disjunction
Genetic types (Cytogenetics)
(2) Translocation : “ 4 % of cases”
• The extra 21 chromosome is translocated (attached)
to another chromosome e.g. (15/21) so total no. of
chromosomes is 46 but the genetic material is that
of 47 chromosomes .