HSC4551 Exam 2 Questions With Complete Solutions
Down Syndrome
disorder caused by extra autosomal chromosome. (ie: slanted
eyes bc extra fold of skin at the eye corner, tongue coarse often
purtrudes, nose short and flat, short stature, sex organs
underdeveloped)
Turner's Syndrome Characteristics
Only one x chromosomes. Appears female but ovaries do not
develop. Breast do not develop. Person is sterile. Short of stature
and has a stocky build
Klinefelter's Syndrome
extra x chromosome is present. person appears to be male but
has small testes that produce no sperm. Female secondary sex
characteristics emerge the breast enlarge and female distribution
of hair develops. Little facial hair develops. Appearance is that
of a young adult. Tall and slender with abnormally long legs.
Hermaphroditism
person has both testes and ovaries is small
Pseudohermaphrodites
have either testes or ovaries usually nonfunctional but remainder
of anatomy is mixed
Congenital Disorders
, present at birth or shortly after. Results from some failure in the
development process.
Congenital Disorders Include
Congenital Rubella, cerebral palsy, hydrocephalus, spina bifida,
congenital heart disease, congenital disorders of the intestines,
cleft lip and cleft palate
Cystic Fibrosis Disease
affecting glands that secrete mucus, leading to recurrent severe
respiratory infections and gastrointestinal disorders
Hemochromatosis
iron storage disorder
Phenylketonuria
inborn error of metabolism that leads to buildup of toxic
products in the brain, leading to developmental
problemsGalactosemia
Galactosemia
inborn error of sugar metabolism that can lead to impaired
mental development and liver damage
Sickle Cell Anemia
disorder in which abnormal hemoglobin causes deformed red
blood cells, anemia, damage to blood vessels
Tay Sachs
Down Syndrome
disorder caused by extra autosomal chromosome. (ie: slanted
eyes bc extra fold of skin at the eye corner, tongue coarse often
purtrudes, nose short and flat, short stature, sex organs
underdeveloped)
Turner's Syndrome Characteristics
Only one x chromosomes. Appears female but ovaries do not
develop. Breast do not develop. Person is sterile. Short of stature
and has a stocky build
Klinefelter's Syndrome
extra x chromosome is present. person appears to be male but
has small testes that produce no sperm. Female secondary sex
characteristics emerge the breast enlarge and female distribution
of hair develops. Little facial hair develops. Appearance is that
of a young adult. Tall and slender with abnormally long legs.
Hermaphroditism
person has both testes and ovaries is small
Pseudohermaphrodites
have either testes or ovaries usually nonfunctional but remainder
of anatomy is mixed
Congenital Disorders
, present at birth or shortly after. Results from some failure in the
development process.
Congenital Disorders Include
Congenital Rubella, cerebral palsy, hydrocephalus, spina bifida,
congenital heart disease, congenital disorders of the intestines,
cleft lip and cleft palate
Cystic Fibrosis Disease
affecting glands that secrete mucus, leading to recurrent severe
respiratory infections and gastrointestinal disorders
Hemochromatosis
iron storage disorder
Phenylketonuria
inborn error of metabolism that leads to buildup of toxic
products in the brain, leading to developmental
problemsGalactosemia
Galactosemia
inborn error of sugar metabolism that can lead to impaired
mental development and liver damage
Sickle Cell Anemia
disorder in which abnormal hemoglobin causes deformed red
blood cells, anemia, damage to blood vessels
Tay Sachs
