DISEASES/ABNORMALITIES Flashcards
the result of a point mutation where there is a change in just one nucleotide in the gene for hemoglobin
SICKLE CELL ANEMIA
a genetic disease common among those who are from Africa
SICKLE CELL ANEMIA
red blood cells to transform to a sickle shape when
de-oxygenated
SICKLE CELL ANEMIA
affects the secretory glands, including the mucus and sweat glands
CYSTIC FIBROSIS
lung infections and limits the ability to breathe over time
CYSTIC FIBROSIS
rare inherited disorder that causes progressive damage to the nervous system and most commonly affects infants
TAY-SACHS DISEASE
absence of a vital enzyme called
hexosaminidase-A (Hex-A)
TAY-SACHS DISEASE
where are Tay-Sachs genes located?
CHROMOSOME 15
inherited bleeding disorder that causes abnormal or exaggerated
bleeding and poor blood clotting
HEMOPHILIA
what disease is called as the ‘royal disease’?
HEMOPHILIA
people have 47 chromosomes in their cells instead of 46 and suffer from mild to moderate disabilities
DOWN SYNDROME
what are the 3 types of Down Syndrome?
Trisomy 21, Mosaicism, Translocation
Klinefelter Syndrome is also referred as?
XXY CONDITION
chromosomal condition that affects male physical and cognitive development
KLINEFELTER SYNDROME
a complex genetic disorder that affects growth, metabolism, appetite, cognitive function, behavioral problems, low levels of sex hormones and a constant feeling of hunger
PRADER WILLI SYNDROME
Prader Willi Syndrome is caused by?
loss of genes in a specific region of chromosome 15
rare chromosomal ailment that impacts girls
TURNER SYNDROME
associated with the x
chromosome that alters development in women
TURNER SYNDROME
also known as Trisomy 18
EDWARD’S SYNDROME
defects involving the brain, heart, craniofacial structures, kidneys, and stomach
EDWARD’S SYNDROME
a genetic condition present from birth that affects growth and development
CRI DU CHAT
infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial
appearance
CRI DU CHAT
missing piece (deletion) of a specific part of chromosome 5 known as the ‘p’ arm
CRI DU CHAT
