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Medical Genetics: The Basics
Reproduction and Genetics
"This is a quiz about the cases that Medical Geneticists encounter on a daily basis. I hope you will find it interesting. "
15 Points Per Correct Answer - No time limit
Prospective genetic counseling occurs in which of the following situations?
When a couple is identified as at risk for developing a genetic disease.
After a couple has a child with a birth defect or genetic disease.
After an individual develops a genetic disease.
When a couple is told their fetus will be born with a genetic disease.
The phenotype is the observable characteristics of an organism based on the genotype, which is the genetic composition of an organism. Which one of the following individuals is expected to display a normal phenotype?
A woman with 46 chromosomes, with a Robertsonian translocation between chromosomes 14 and 21.
A woman with 45 chromosomes, with a Robertsonian translocation between chromosomes 14 and 21.
A woman with karyotype 47, XX,+18.
A man with deletion of a band on chromosome 4.
Which of the following statements describes Klinefelter's syndrome accurately?
It is seen at a higher frequency in males in prison than in the general population.
It occurs in a phenotypic female with 46,XY karyotype.
It is characterised by ambiguous genitalia at birth.
It is characterised by a 47,XXY karyotype with hypogonadism after puberty.
Characteristics of women with Turner's syndrome include which of the following?
They almost always display short stature.
They are mentally retarded.
They usually undergo normal pubertal changes.
They have a higher than normal risk of developing breast cancer.
What is the Philadelphia chromosome?
A derivative chromosome formed by a translocation between chromosomes 9 and 22.
A deleted chromosome 22.
A chromosome which is most commonly associated with acute myelogenous leukemia.
A chromosome which is commonly seen in spontaneous abortions.
Retinoblastoma, a rapidly developing eye cancer which originates in the cells of the retina, is caused by which of the following?
It is caused by a deletion of the esterase D gene.
It is caused by mutations or deletion of both copies of the RB1 gene.
It is always associated with osteosarcoma.
It is caused by a translocation between chromosomes 12 and 14.
The biochemical causes of both myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are most often which of the following?
Mutations in a mitochondrial transfer RNA gene, resulting in defects in multiple mitochondrial protein complexes.
Deletions of mitochondrial DNA, resulting in defects in multiple mitochondrial protein complex.
Defects in a single nuclear gene/protein, resulting in abnormal mitochondrial function.
Mutations in a mitochondrial ribosomal RNA gene, resulting in defects of multiple mitochondrial protein complexes.
Which answer describes triploidy correctly?
It is the most common chromosomal abnormality seen in spontaneous abortions.
It is a conception with one extra chromosome.
It is a conception with one extra haploid set of chromosomes.
It is usually not diagnosed in an infant until after the first year of life.
Chorionic villus sampling (CVS) is a technique which is essentially a biopsy of the placenta. CVS is indicated in which of the following situations?
The couple had a previous child with spina bifida.
The father is a carrier of a 14;21 translocation.
Fetal omphalocele was detected by ultrasound at 20 weeks gestation.
The patient's brother has Down's syndrome.
X chromosome inactivation is a mechanism for which of the following?
Elimination of deleterious genes from the X chromosome.
Distinguishing between males and females.
Gene dosage compensation in mammals.
Maintaining polymorphisms in the population.
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Compiled Jun 28 12