Genetic disorders Flashcards
defective protein in connective tissue
marfan syndrome
abnormal hemoglobin protein in RBC
Sickle cell anemia
lack of a substance needed for bones to absorb minerals
vitamin D-resistant rickets
reduced activity of a protein needed for blood clotting
hemophilia A
mode of inheritance of marfan syndrome
autosomal dominant
mode of inheritance of sickle cell anemia
autosomal recessive
mode of inheritance of Vitamin D- resistant rickets
x-linked dominant
mode of inheritance of hemophilia A
x-linked recessive
It is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body.
Marfan syndrome
It affects the shape of red blood cells, which carry oxygen to all parts of the body
Sickle cell anemia
difficult to maintain proper calcium and phosphorus levels in
bones, which can cause rickets.
Vitamin D- resistant rickets
which is not true in chromosomal disorders?
- Mistakes may occur during meiosis that result in nondisjunction.
- This is the failure of replicated chromosomes to separate during
meiosis (the animation at the link below shows how this
happens).
- Some of the resulting gametes will be having a chromosome,
while others will have an extra copy of the chromosome. If such
gametes are fertilized and form zygotes, they usually do not
survive.
- If they do survive, the individuals are likely to have serious
genetic disorders.
3, missing of a chromosome
Down syndrome genotype
extra copy of chromosome 21
Turner’s syndrome genotype
one X chromosome but no other sex chromosome (XO)
Triple X syndrome
three X chromosomes (XXX)
Klinefelter’s syndrome
one Y chromosome and two or more X chromosomes (XXY, XXXY)
It is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21.
Down syndrome
A condition that affects only females, results when one of the X chromosome (Sex chromosomes is missing or partially missing.
Turner syndrome
Delayed motor development, delayed speech, low IQ, abdominal pain and ADHD
Triple X syndrome
This results in smaller testicles, which can lead to making less of the hormone testosterone
Klinefelter’s syndrome
Professionals that handling diagnosing genetic disorders
genetic councelors
One method of prenatal testing. A few fetal cells are extracted from the fluid surrounding the fetus, and the fetal chromosomes are examined.
amniocentesis
Genes contain DNA — the code that controls much of the body’s form and function. DNA controls everything from hair color and height to breathing, walking and digesting food.
Gene Therapy
