Karyotypes and chromosomes Flashcards
What is another name for Trisomy 13?
Patau’s syndrome
What is another name for Trisomy 18?
Edward’s syndrome
What is another name for Trisomy 21?
Down Syndrome
What is XXY?
Klinefelter syndrome
What is muscular dystrophy?
Genetic diseases causing progressive muscle weakness and mass muscle loss.
What is Sickle Cell?
Genetic blood disorder causing abnormally shaped blood cells.
What is Albinism?
Genetic condition resulting in lack of pigment in the eyes, skin, and hair.
What is Cystic Fibrosis?
Mucus build up in the lungs and digestive system and other organs.
What are the symptomes for Muscular Dystrophy
Weak muscles ( difficult movements) and hard breathing
What are the symptoms for Sickle cell?
Amenia, stroke, jaundice, acute chest syndrome and more
What are the symptoms for Albinism?
Skin cancer risk and vision problems
What are the symptoms for Cystic fibrosis?
Respiratory and digestive problems
Who is sickle cell most common in?
African and asian (no gender)
Cystic fibrosis is inherited by a genetic disease caused by
Mutations in the CFTR gene
How can you tell if a disorder is dominant?
atleast One parent has it ( seen through generations)
How can you tell if a disorder is recessvie?
Both parents have it
Where do we recieve our chromosomes from?
Half mom, half dad
Who determins the gender of the baby?
The fathers sperm cells
Which pairs of chromosomes determin the gender?
23rd chromosome
What are cytogeneticsists and what do they study?
Genetecists specializing in the study of chromosomes
What is a pedigree chart?
A diagram that visually represents the inheritance of traits/ genetic conditions throughout generations.
What is a centerome?
Region in chromosome where sister chromatids join, serving attatchemnet point for spindel fibers during cell division.
Which phase of the cell cycle are the chromatids stained?
Metaphase
How many karyotypes are performed every year?
over 400k
