HBIO 370 EXAM QUESTIONS AND ANSWERS WITH COMPLETE
SOLUTION VERIFIED 100%
karyotype
cytogenic test to evaluate the size, shape, chromosome number in a cell sample
phytohemaggluttinin
promotes cell division
colchicine
prevents the formation of spindle fibers
trypsin
detaches cells from the flask
fluorescence in situ hybridization
karyotype study that uses fluorescent probe annealing with specific bands (whole
chromosome probes, centromeric probes, unique sequences, CML abl (oncogene)
and bcr (ser/thr kinase)
comparative genomic hybridization
hybridization of patient's fragmented and fluorescently labeled DNA and compared to
a standard to detect copy number changes; first line test in the investigation of
patients with severe developmental/learning/congenital abnormalities
Edwards Syndrome
small jaw (micrognathia), clubfoot
Patau Syndrome
holoproscencephaly and anophtalmia
Turner Syndrome
, phenotypically female, webbed neck, ovarian failure causing primary amenorrhea,
short stature, normal IQ, impaired social cognition; associated disorders: renal
problems, Hashimotos' thyroiditis (autoimmune hypothyroidsim), cardiac
malformations
Klinefelter Syndrome
phenotypically male, learning difficulties, 50% normal fertility, taller than average,
slightly lower IQ
Jacob Syndrome
taller than the average, lower IQ, prominent glabella, learning differences, behavior
differences, delayed speech, large teeth, poor fine motor skills, long ears, less
common than Klinefelters, new study about prison incidence
XXX Syndrome
taller than the average, webbed neck, epicanthal folds, hypoplastic noise,
underdeveloped ovaries, lower IQ, learning differences, behavior differences,
delayed speech, ADHD, more common than Turner only 10% diagnosed
46, XY DSD
discordance between genetic sex and genitalia (internal and/or external); typical
female genitalia to ambiguous genitalia to underdeveloped male genitalia;
ambiguous or female external genitalia: may be assigned female gender at birth;
seek medical support at puberty due to amenorrhea and impaired breast
development
46, XY DSD Categories
1. differences in testicular development (Gonadal dysgenesis)
2. impaired androgen synthesis
3. impaired androgen action
SOLUTION VERIFIED 100%
karyotype
cytogenic test to evaluate the size, shape, chromosome number in a cell sample
phytohemaggluttinin
promotes cell division
colchicine
prevents the formation of spindle fibers
trypsin
detaches cells from the flask
fluorescence in situ hybridization
karyotype study that uses fluorescent probe annealing with specific bands (whole
chromosome probes, centromeric probes, unique sequences, CML abl (oncogene)
and bcr (ser/thr kinase)
comparative genomic hybridization
hybridization of patient's fragmented and fluorescently labeled DNA and compared to
a standard to detect copy number changes; first line test in the investigation of
patients with severe developmental/learning/congenital abnormalities
Edwards Syndrome
small jaw (micrognathia), clubfoot
Patau Syndrome
holoproscencephaly and anophtalmia
Turner Syndrome
, phenotypically female, webbed neck, ovarian failure causing primary amenorrhea,
short stature, normal IQ, impaired social cognition; associated disorders: renal
problems, Hashimotos' thyroiditis (autoimmune hypothyroidsim), cardiac
malformations
Klinefelter Syndrome
phenotypically male, learning difficulties, 50% normal fertility, taller than average,
slightly lower IQ
Jacob Syndrome
taller than the average, lower IQ, prominent glabella, learning differences, behavior
differences, delayed speech, large teeth, poor fine motor skills, long ears, less
common than Klinefelters, new study about prison incidence
XXX Syndrome
taller than the average, webbed neck, epicanthal folds, hypoplastic noise,
underdeveloped ovaries, lower IQ, learning differences, behavior differences,
delayed speech, ADHD, more common than Turner only 10% diagnosed
46, XY DSD
discordance between genetic sex and genitalia (internal and/or external); typical
female genitalia to ambiguous genitalia to underdeveloped male genitalia;
ambiguous or female external genitalia: may be assigned female gender at birth;
seek medical support at puberty due to amenorrhea and impaired breast
development
46, XY DSD Categories
1. differences in testicular development (Gonadal dysgenesis)
2. impaired androgen synthesis
3. impaired androgen action
