practical 6 07
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Practical 6
Numerical chromosomalabnormalities
Task A• A fetus with multiple
malformations including
syndactyly had been
cytogenetically
examined
• Determine and describe
the chromosomal
finding.
Triploidy 69,XXY
Lethal during prenatal development.
Partial hydatidiform mole
Mass of trophoblastic tissue
Mosaic form of triploidy
69,XXY/46,XY
69,XXX/46,XX
Numerical chromosomal abnormalities
• Polyploidy– Triploidy 3n– Tetraploidy 4n
• Aneuploidy– in somatic cells
• Trisomy 2n+1• Monosomy 2n – 1• Tetrasomy 2n + 2
– in gametes• Nullisomy n – 1• Disomy n + 1
Normal karyotype
Triploidy
Trisomy
Monosomy
Aneuploidy
Polyploidy
Task 1
• Determine the chromosomal finding.
• Karyotype 1
Trisomy 21
47,XX,+21
47,XY,+21
Down syndrome
47,XX,+21
47,XY,+21
Down syndrome
Down syndrome
Epicanthic fold Palm or „simian“ crease
Phenotypic features of the Down syndrome
Trisomy 21 in the fetus
Cause of chromosomal aneuploidies – non-disjunction
• Meiotic
• Mitotic
leads to mosaic
Task 3
• Determine following karyotypes and
describe corresponding phenotypic
features
• See karyotypes 2, 3, 4, 5, 6, 7
Karyotype 2
Trisomy of chromosome 13
47,XX,+13
Patau syndrome
Patau syndrome
polydactyly
Patau syndrome – cyclopia
Karyotype 3
Trisomy of chromosome 18
47,XY,+18
Edwards syndrome
Trisomy 18
Edwards syndrome
Edwards syndrome
„rocker bottom feet“
A fetus with trisomy 18
Fetus with trisomy 18
Karyotype 4
Monosomy of chromosome X
45,X
Turner syndrome(Ulrich-Turner syndrome)
Turner syndrome – streak gonads
Phenotypic features of the Turner syndrome
Monosomy X in the fetus
• Very frequent abnormality in
miscarriages
• It is possible that full
monosomy is lethal during
prenatal development
• Only mosaic forms can
survive?
Description of the mosaic form of the Turner syndrome
• 45,X [40] / 46,XX [35]
• 40 + 35 = 75 cells had been examined
• In 40 cells monosomy X was identified.
• 35 cells had normal karyotype.
Karyotype 5
47,XXY
Klinefelter syndrome
Phenotypic features of the Klinefelter syndrome
Klinefelter syndrome phenotype
Karyotype 6
Superfemale – 47,XXX
Karyotype 7
Supermale – 47,XYY
Barr body examination
Epithelial cells from the buccal smear
Barr body
• = sex-chromatin
• Inactivated X chromosome
• Female XX
– 1 Barr body
• Male XY
– no Barr hody
• Klinefelter syndrome XXY
– 1 Barr body
Murray L. Barr
Task 4
• Estimate possible constitution of
sex chromosomes in an
individual with two Barr bodies.
Possible chromosomal findings:
Superfemale – 47,XXX
Rare form of the Klinefelter syndrome – 48,XXXY
Happy Easter!
Feliz Páscoa!
Frohe Ostern!
Radostné Velikonoce!
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