Cell Biology Flashcards
What are the first 22 pairs of chromosomes called?
Autosomes
What is the 23rd chromosome called?
Sex Chromosome
What are karyographs?
Photos of chromosomes
Arranged in pairs (according to size)
Determine chromosomal makeup of individual
What do Karyotypes reveal?
If there’s an extra or missing chromosome (aueuploidy)
if diploid number of chromosomes are present= correct
sex of individual
How are karyotypes commonly prepared?
Prepared from cells of unborn babies
Harvested though AMNIOCENTESIS
How does the process of amniocentesis work?
Amniotic fluid is collected using a needle
Visible chromosomes present- foetus (growing) = active cell division
foetus suspected in medium= contain detached foetal cells
chromosomal diseases can be identified= down syndrome
How many births does down syndrome occur?
1 in 800 live births
In what situation does the risk of having a baby with down syndrome increase?
As the mother increases with age
What are the clinical features of Down Syndrome?
Single transverse palmar crease
Flattened facial features
Macroglossia (enlarged tongue)
Epicanthal folds around eyes
Bushfield spots of iris spots
Sepal defects
What can macroglossia impact?
Impact speech and swallowing
What percentage of babies with down syndrome have sepal defects?
50%
What are the negative impacts of having a sepal defect?
Allows for the mixing of blood of the heart
Mixing of:
Oxygenated blood= Left
Deoxygenated blood= Right
Atrial sepal defects- NOT serious
Ventricle sepal defects- SERIOUS
- Rare
-Surgery
- Are the pumping chambers of the heart
How often does Patau syndrome (trisomy 13) occur ?
1 in every 10,000 live births
What are the physical defects of Patau syndrome?
Incomplete brain development
Missing eyes
Cleft Palate
How many cells are there in the humans body?
50 Trillion