Genetics Flashcards
What does phenotype refer to?
physical features
What does genotype refer to?
genes, DNA
How many generations should be included on a pedigree (genogram)?
3
Hypotonia and brushfield spots are common physical findings for what genetic disorder?
Trisomy 21 (Down syndrome)
What is the most common cause of hypogonadism and infertility in men?
XXY syndrome (Klinefelter’s syndrome)
Which syndrome is only found in males and typically presents in puberty?
Klinefelter’s
Which syndrome is a spontaneous occurence and not inherited?
Klinefelter’s
Which syndrome is found in females and about 95% of embryos don’t survive to term?
XO Karyotype (Turner’s syndrome)
In which syndrome is a shield-shaped chest w/ widely spaced nipples, hypertension, and bicuspid aortic valve and/or coarctation of the aorta common?
Turner’s syndrome
Which syndrome is an inherited connective tissue disorder?
Marfan syndrome
In which syndrome does arm span exceed height?
Marfan syndrome
Which cardiovascular anomalies may be present in Marfan syndrome?
aortic regurgitation, mitral valve prolapse, and aortic aneurysm
Which genetic disease does not have a cure and appears normal at birth with deterioration occurring between 3 and 6 months of age?
Tay-Sachs disease
Typically, what are the first signs of Tay-Sachs disease in an infant?
decreased muscle tone and cherry red macula
What is a congential defect of the parathyroid glands, thymus, and the conotruncal region of the heart?
DiGeorge (velocardiofacial) syndrome
