Solved) USMLE Genetics: Updated A + Guide Solution:
Updated
Symptoms of MERRF include MERRF - ANSWERmyoclonic jerks,
epilepsy generalized seizures,
Ragged red fibers
Reduce cognition (dementia)
F(falling over) cerebellar ataxia,
MERRF syndrome caused by a - ANSWERpoint mutation of mitochondrial DNA
Persistent Mullerian Duct Syndrome in a male, it causes development of -
ANSWERboth male and female internal sex organs.
Swyer Syndrome (XY gonadal dysgenesis) A defect in the expression of the -
ANSWERtestis-determining factor (TDF
Swyer Syndrome (XY gonadal dysgenesis) genetalia internal and external? -
ANSWERfemale internal genitalia from the paramesonephric ducts and female
external genitalia.
it is uncommon for patients with XLA to develop symptoms before the age of due to
maternal antibodies until this age. - ANSWER6 months
Breast cancer can show mutations of tyrosine kinase . - ANSWERHer2/neu
tyrosine kinase Her2/neu belongs to the .... receptor family and is not a tyrosine
kinase - ANSWERepithelial growth factor
cytoplasmic (non-receptor)
congenital hypothyroidism such as CRETINISM CHIMP - ANSWERCry, hoarse/ Color
jaundice
Hypotonia/hernia
Increase head circumference
Macroglossia
Poor feeding and lethargy,
Beckwith-Wiedemann Syndrome (BWS) Caused by abnormal patterns of -
ANSWERimprinting on chromosome 11
A mutation in ... the is the most common cause of Jervell and Lange-Nielsen
syndrome, arrhythmias and sensorineural deafness. - ANSWERKCNQ1 gene
repairs dsDNA breaks (e.g., induced by ionizing radiation) in eukaryotic cells
, mechanism of single-stranded DNA repair, - ANSWERNonhomologous end joining
(NHEJ)
Nucleotide excision repair and Base excision
DNA mismatch repair is a ... strand repair mechanism only occurs in the phase of the
cell cycle, - ANSWERsingle-strand
S phase or G2
DNA mismatch repair cannot repair damage to neurons, - ANSWERpermanently
arrested in the G0 phase.
viral DNA integration in what disease - ANSWERhepatocellular carcinoma(HCC)
A solitary hepatic mass in an individual with elevated α-fetoprotein levels is strongly
suggestive of - ANSWERhepatocellular carcinoma(HCC)
annular pancreas vs deudonal atresia similar on X ray and seen in what disease -
ANSWERboth have double bubble sign and seen in Down syndrome
duodenal atresia different than annular pancreas because it has - ANSWERbilious
vomiting and delayed meconium
Chromosome 22q11.2 microdeletion and IL-2 receptor gamma chain defect both
have - ANSWERabsent thymic shadow and immunodeficiency
Chromosome 22q11.2 microdeletion is different to IL-2 receptor gamma chain defect
because it has - ANSWERcongenital heart defects) and tetany (due to hypocalcemia)
A .. mutation of the tumor suppressor gene APC is the initiating event in the
chromosomal instability pathway - ANSWERloss-of-function
most common hereditary form of colorectal cancer due to... gene mutation leading
to impaired.. and ... syndrome - ANSWERMLH1 gene result in defective DNA
mismatch repair, Lynch syndrome,
How does Bartter different to Gitelman - ANSWERYounger
More calcium lost in urine
Fanconi vs (Bartter and Gitelman) similarities - ANSWERmuscle cramping and
hypokalemia.
Fanconi vs (Bartter and Gitelman) differences - ANSWERFanconi has normal anions
acidosis and hypocalcemia
Noncoding hexanucleotide repeats are implicated in - ANSWERfamilial
frontotemporal dementia (FTD)
Updated
Symptoms of MERRF include MERRF - ANSWERmyoclonic jerks,
epilepsy generalized seizures,
Ragged red fibers
Reduce cognition (dementia)
F(falling over) cerebellar ataxia,
MERRF syndrome caused by a - ANSWERpoint mutation of mitochondrial DNA
Persistent Mullerian Duct Syndrome in a male, it causes development of -
ANSWERboth male and female internal sex organs.
Swyer Syndrome (XY gonadal dysgenesis) A defect in the expression of the -
ANSWERtestis-determining factor (TDF
Swyer Syndrome (XY gonadal dysgenesis) genetalia internal and external? -
ANSWERfemale internal genitalia from the paramesonephric ducts and female
external genitalia.
it is uncommon for patients with XLA to develop symptoms before the age of due to
maternal antibodies until this age. - ANSWER6 months
Breast cancer can show mutations of tyrosine kinase . - ANSWERHer2/neu
tyrosine kinase Her2/neu belongs to the .... receptor family and is not a tyrosine
kinase - ANSWERepithelial growth factor
cytoplasmic (non-receptor)
congenital hypothyroidism such as CRETINISM CHIMP - ANSWERCry, hoarse/ Color
jaundice
Hypotonia/hernia
Increase head circumference
Macroglossia
Poor feeding and lethargy,
Beckwith-Wiedemann Syndrome (BWS) Caused by abnormal patterns of -
ANSWERimprinting on chromosome 11
A mutation in ... the is the most common cause of Jervell and Lange-Nielsen
syndrome, arrhythmias and sensorineural deafness. - ANSWERKCNQ1 gene
repairs dsDNA breaks (e.g., induced by ionizing radiation) in eukaryotic cells
, mechanism of single-stranded DNA repair, - ANSWERNonhomologous end joining
(NHEJ)
Nucleotide excision repair and Base excision
DNA mismatch repair is a ... strand repair mechanism only occurs in the phase of the
cell cycle, - ANSWERsingle-strand
S phase or G2
DNA mismatch repair cannot repair damage to neurons, - ANSWERpermanently
arrested in the G0 phase.
viral DNA integration in what disease - ANSWERhepatocellular carcinoma(HCC)
A solitary hepatic mass in an individual with elevated α-fetoprotein levels is strongly
suggestive of - ANSWERhepatocellular carcinoma(HCC)
annular pancreas vs deudonal atresia similar on X ray and seen in what disease -
ANSWERboth have double bubble sign and seen in Down syndrome
duodenal atresia different than annular pancreas because it has - ANSWERbilious
vomiting and delayed meconium
Chromosome 22q11.2 microdeletion and IL-2 receptor gamma chain defect both
have - ANSWERabsent thymic shadow and immunodeficiency
Chromosome 22q11.2 microdeletion is different to IL-2 receptor gamma chain defect
because it has - ANSWERcongenital heart defects) and tetany (due to hypocalcemia)
A .. mutation of the tumor suppressor gene APC is the initiating event in the
chromosomal instability pathway - ANSWERloss-of-function
most common hereditary form of colorectal cancer due to... gene mutation leading
to impaired.. and ... syndrome - ANSWERMLH1 gene result in defective DNA
mismatch repair, Lynch syndrome,
How does Bartter different to Gitelman - ANSWERYounger
More calcium lost in urine
Fanconi vs (Bartter and Gitelman) similarities - ANSWERmuscle cramping and
hypokalemia.
Fanconi vs (Bartter and Gitelman) differences - ANSWERFanconi has normal anions
acidosis and hypocalcemia
Noncoding hexanucleotide repeats are implicated in - ANSWERfamilial
frontotemporal dementia (FTD)
