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WorksheetsiSMART QUIZ: Human Genetics
Total questions: 20
Worksheet time: 20mins
DNA cannot be obtained for diagnostic procedures from which of the following tissues?
Tissue biopsy specimens
White blood cells
Red blood cells
Cultured amniotic fluid cells
A mutation that adds or deletes a DNA base pair and results in the substitution of one amino acid for another is
Frameshift mutation
Nonsense mutation
Missense mutation
Aneuploid mutation
The most common inheritance pattern among inborn errors of metabolism
Autosomal dominant
Autosomal recessive
X-linked
Mitochondrial
The most common cause of birth defects
Single gene defects
Chromosomal anomalies
Environmental/maternal
Unknown
The developmental mechanism in congenital anomalies that is primarily due to external mechanical force/s as exemplified by isolated talipes equinovarus due to oligohydramnios
Malformation
Disruption
Deformation
Dysplasia
Performing a test in a presymptomatic person who is at risk for developing a genetic disorder, usually based on family history
Pharmacogenetic testing
Predispositional testing
Predictive testing
Diagnostic testing
Which of the following can be offered to a woman in her 18th week of pregnancy as confirmatory testing for Trisomy 21?
Routine prenatal ultrasound
Chorionic villi sampling
Congenital anomaly scan
Amniocentesis
Who among the following is expected to be phenotypically normal?
An infant with karyotype 47, XX +13
A male with deletion of a band on chromosome 5
A prepubertal female with 45, X
A baby with balanced reciprocal translocation
Who among the following would have the highest risk to have a child with Down Syndrome?
A 23-year-old woman with a six-month-old baby with Down Syndrome
A 41-year-old primigravid woman
A 28-year-old woman married to a man known to be translocation carrier
A 35-year-old woman with a toddler who has repaired ventricular septal defect
Which of the following is not true of advanced paternal age?
Poses higher risk for spontaneous mutations associated with X-linked disorders
Poses higher risk for spontaneous mutations associated with autosomal dominant disorders
>40 years old
=40 years old
Which of the following disorders in the newborn screening panel follows the X-linked pattern of inheritance?
Phenylketonuria
Congenital Adrenal Hyperplasia
Alpha thalassemia
G6PD deficiency
Dietary manipulation is the primary mode of management in the following conditions except
Galactosemia
Maple syrup urine disease
Congenital Hypothyroidism
Glutaric aciduria Type I
A stop codon is specifically produced by what mutation?
Frame shift
Non-sense
Missense
Splice site
What is the risk of an affected father passing G6PD deficiency gene to his daughter?
0%
25%
50%
100%
This pedigree is consistent with which pattern of inheritance?
Autosomal dominant
Autosomal recessive
X-linked recessive
Mitochondrial
Which mRNA sequence is the product of DNA sequence GTAACTCAG?
UATTGAGTU
CATTGAGTC
CAUUGAGUC
CUTTGUGTC
Diagnosis is established by chromosomal analysis in the following conditions except
Down Syndrome
Achondroplasia
Turner Syndrome
Cri du chat syndrome
Fluorescent-in-situ hybridization is useful in the following conditions except
Prader-Willi Syndrome
Williams Syndrome
Angelman Syndrome
Osteogenesis Imperfecta
Processes from DNA to protein production
Translation, transcription, RNA splicing, protein assembly
RNA splicing, translation, transcription, protein assembly
Transcription, RNA splicing, translation, protein assembly
Transcription, translation, RNA splicing, protein assembly
The following are trinucleotide repeat conditions, except
Alzheimer’s Disease
Huntington’s Disease
Fragile X Syndrome
Myotonic Dystrophy
