Clinical genetics Flashcards
What is Klinefelter syndrome
47, XXY
Infertility as do not produce sperm
Lack of testosterone
Tall
What is turner syndrome
45, X
Short
Primary amenorrhoea
Congenital heart disease
What is Edwards syndrome
Trisomy 18
Multiple malformations (especially heart, kidneys)
Clenched hands with overlapping fingers
What is Patau syndrome
Trisomy 13
Multiple malformations
Affects midline structures, incomplete lobation of brain, cleft lip, congenital heart disease
What is DiGeorge syndrome
Microdeletion
Small mouth
Prominent nose
Congenital heart defects
What is Williams syndrome
Microdeletions Bright eyes Stellate irises Wide mouth Flattened nasal bridge Heart defects
What are the types of genetic disorders
Multifactorial
Single gene
Chromosomal
What are the stages of mitosis
Prophase
Metaphase
Anaphase
Telophase
What happens in prophase
Chromatin condenses to form chromosomes
What happens in metaphase
Nuclear membrane disappears and chromatin align at the eguitorial plate
What happens in anaphase
Sister chromatids separate and centromeres divide
Chromatin expands and cytoplasm divides
What is a telomere
DNA and protein cap which ensures replication of the tip tethers to nuclear membrane
What is the centromere
Joins sister chromatids essential for chromosome segregation at cell division
What is the karyotype
Description of chromosomes in short hand
Number of cells, Sex chromosomes
What is the process of PCR
Template strand of DNA heated to 94 degrees C -> Denaturation -> cooled to 55 degrees C -> annealing of RNA primers -> heated to 72 degrees C -> DNA transcribed by Taq polymerase -> templates for new cycle of amplification
