Cytogenetics I L9 Flashcards
1
Q
Define Aneuploidy
A
Abnormality in the # of chromosomes
2
Q
Define Polyploidy
A
Abnormality in the # of ALL chromosomes
3
Q
What are the three exampels of aneuploidy?
A
- Monosomy
- Trisomy
- Tetrasomy
4
Q
What are the two examples of polyploidy?
A
- Triploidy
2. Tetraploidy
5
Q
Define Monosomy
A
1 copy of a chromosome (45X: Turners)
6
Q
Define Trisomy
A
3 copies of a chromosome (47 XY +21: Downs Syndrome)
7
Q
Define Tetrasomy
A
4 copies of a chromosome
8
Q
Define Triploidy
A
3 full sets of chromosomes (69, XXY)
9
Q
Define Tetraploidy
A
4 full sets of chromosomes (92 XXYY)
10
Q
What is/are key features of trisomy 13?
A
- Called Patau Syndrome
- Polydactyly
- Poor prognosis
11
Q
What is/are key features of trisomy 18?
A
- Called Edward’s Syndrome
- Rocker Bottom Feet
- Poor prognosis
12
Q
What is/are key features of trisomy 21?
A
- Called Down’s Syndrome
- Single palmar crease
- Hypotonia
- Intellectual Disability
- CHD
13
Q
What is/are key features of Turner’s Syndrome?
A
- Short stature
- Infertility
14
Q
What is/are key features of Klinefelter’s Syndrome?
A
- Tall stature
- Long limbs
- Gynecomastia
- Infertility
