finals

• DiGeorge Syndrome*


  Which genetic disorder is characterized by an abnormality in chromosome 22, resulting in heart defects, distinctive facial features, and intellectual disability?
• Phenylalanine hydroxylase*


  Phenylketonuria (PKU) is an autosomal disorder caused by the deficiency of which enzyme?
• Duchenne muscular dystrophy*


  Which of the following genetic disorders is inherited in an X-linked recessive manner?
• 25%*


  In autosomal recessive disorders, if both parents are carrier, what is the chance that their child will be affected?
• 50%*


  In autosomal dominant, if one parent is affected and the other is not, the chance of passing the disorder to their child is:
• 47 XXY*


  Klinefelter syndrome is characterized by the presence of an extra X chromosome in males. What is the typical karyotype of individuals with Klinefelter syndrome?
• Turner Syndrome*


  Which genetic disorder is characterized by the absence of an X chromosome in females, leading to short stature and infertility?
• X chromosome*


  In sex-linked disorders, the gene responsible for the disorder is located on:
• 1*


  Autosomal recessive genetic disorder require __ copies of the alleles for the disorder to be expressed phenotypically.
• 23 pairs* (22 pairs of autosome and 1 pair of sex chromosome)


  What is the typical number of chromosomes in human karyotype?
• Male*


  Color blindness, a sex-linked disorder, is more common in:
• Down Syndrome*


  Which genetic disorder is characterized by an extra chromosome 21?
• FMR1*


  Fragile X syndrome is caused by the expansion of CGG repeats in which gene?
• Point Mutation


  Also called as missense mutation.
• Autosomal Recessive


  Which is more common Autosomal dominant or Autosomal recessive?
• Huntington Disease


  A neurodegenerative disorder that would result in progressive deterioration in the cognitive motor function of the individual.
• Deletion


  Loss of chromosome fragments.
• Autosomal Dominant Pedigree


  Both sexes involved, generations not skipped.
• Autosomal Recessive Pedigree


  Both sexes involved, generations skipped.
• Lysosomal Storage


  Accumulation of substrates that are stored in the lysosome.
• Karyotyping


  Study of Chromosomes
• Trisomy 21


  No. 1 cause of mental retardation
• Formation of fibrin clot*


  What is the primary function of primary hemostasis?
• Platelets*


  Which cell type is primarily involved in primary hemostasis?
• VIII*


  Which factor leads to Hemophilia A?
• IX


  Which factor leads to Hemophilia B?
• Thrombosis*


  What is the term for a pathological condition characterized by the formation of blood clots in blood vessels?
• von Willebrand factor*


  Which molecule helps platelets adhere to the site of injury during primary hemostasis?
• Thrombin*


  Which molecule helps platelets adhere to the site of injury during primary hemostasis?
• Uniformity in size and shape*


  Which of the following is a characteristic feature of well-differentiated cells?
• Assess the extent of cancer spread*


  Cancer staging is a system used to
• Resemblance to normal tissue*


  Which of the following histological features is characteristic of well-differentiated neoplasms?
• Metastasis*


  Which term describes cancer cells spreading from one organ to another?
• The tumor has invaded nearby structures or organs*


  What does the stage T3 in the TNM staging system typically indicate?
• Apoptosis*


  Which cellular process is often dysregulated by oncogenes?
• Sarcoma*


  What is the term for cancer arising from connective tissue?
• Deep veins of the lower extremities*

  What is the common site for thrombosis formation in venous thromboembolism?
• It provides detailed information about tumor biology*


  Which of the following is an advantage of the TNM staging system?
• Driving uncontrolled cell proliferation*


  How does oncogenes contribute to cancer development?
• Stage I


  Which stage of cancer indicates that the tumor is confined to the tissue where it originated and has not spread to nearby lymph nodes or distant organs?