QF-PCR Flashcards
1
Q
QF-PCR
A
Quantity Fluorescence-PCR:
- newborn screening for aneuploidies
- different coloured fluorophores attached to different STR
2
Q
Aneuploidy
A
Gain or loss of a chromosome
3
Q
Monosomy
A
Loss of a chromosome
4
Q
Disomy
A
Two copies of a chromosome
5
Q
Trisomy
A
Three copies of a chromosome
6
Q
Non-disjunction
A
- failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division
- usually resulting in an abnormal distribution of chromosomes in the daughter nuclei
7
Q
Turner Syndrome
A
- Monosomy X
- karyotype: 45, X
- viable fetus = female phenotype
- webbed neck, loss of ovarian function
8
Q
Klinefelter Syndrome
A
- Disomy
- Karyotype: 47, XXY
- Viable fetus = phenotype as male
- small testes/ penis, breast growth
9
Q
Trisomy X
A
- Karyotype: 47, XXX
- most common female sex chromosome aneuploidy
- taller than average females
10
Q
XYY syndrome
A
- Karyotype: 47, XYY
- viable fetus = phenotype as male
- tall, enlarged head, learning disability
11
Q
Patau Syndrome
A
- Trisomy Syndrome
- Karyotype: 47, XX+13 or 47, XY+13
- cleft palate, heart and CNS defects
12
Q
3 Trisomies that are most compatible with life
A
Patau Syndrome (trisomy 13)
Edwards Syndrome (trisomy 18)
Down Syndrome (trisomy 21)
13
Q
Edwards Syndrome
A
- Karyotype: 47, XX+18 or 47, XY+18
- partial trisomy (half extra chromosome) is less severe than full trisomy
- feeding and breathing problems
~90% die within a year
14
Q
Downs Syndrome
A
- Karyotype: 47, XX+21 or 47, XY+21
- characteristic craniofacial abnormality
- childhood leukemia
- early onset Alzheimer’s disease
15
Q
D8S1179
A
- “microsatellites” or short-tandem repeats
- on chromosome 8
- TCTA can be repeated 7-20 times
- has >14 alleles
