UNIT 5 GENETIC + CONGENITAL DISORDERS Flashcards
Congenital valulopathies = 2
- 22 pairs of autosmes
- 1 pair of gametes
most common tristonomies= 4
1) Trisomy 21: Down syndrome
2) • Trisomy 18: Edwards syndrome
3) • Trisomy 13: Patau syndrome
4) • Trisomy 23 (sexual chromosome): Klinefelter syndrome (47, XXY)
most common monosomy=
• Monosomy 23 (sexual chromosoma): Turner syndrome (45, X0)
what is Trisomy 18: Edwards syndrome?
extra 18th chromosome= die during fetal stage;
what is Trisomy 13: Patau syndrome?
extra 13th chromo =complex organ defects
what is Trisomy 23 (sexual chromosome): Klinefelter syndrome (47, XXY)?
men have extra X = infertility and small testicles.
what is 21: Down syndrome?
-physical growth delays, characteristic facial features, and mild to moderate intellectual disability.
what is dwarfism?
big head + trunks caused by A CHONDRO PLASIA
=born with no growth cartilage
what is dwarfism what is it caused by?
big head + trunks caused by A CHONDRO PLASIA
=born with no growth cartilage
what is candida albicans? (WHITE)
yeast fungus, very common oral problem in high humidity
-mouth, vagina + rectum
WHAT IS HEMOPHILIA A?
SEX LINKED DISEASE
lack of factor 8, need to receive EVERY 3MONTHS
- lack of clotting factors
- X recessive = higher in men.
what is a Monogenetic disorder?
caused by a mutation in a single gene
-dominant, recessive + sex linked.
what is von Willebrand disease?
bleeding disorder = missing vw (factor clotting )
-AUTOSOMAL DOMINANT
which diseases are dominant 3
- Achondroplasia, (Short-limb dwarfism
- von Willebrand disease,
- Huntington’s chorea Neurodegenerative disease
which diseases are recessive
(onset of symptoms is late)(adult) 3
- Cystic fibrosis,( Lung and pancreatic disease)
- albinism,
- thalassemia (faulty haemoglobin synthesis)
