General Pathology Practice Questions

Q: Which chromosome is associated with familial polyposis coli?

Chromosome 5. **Explanation:** **1. Why Chromosome 5 is Correct:** Familial Adenomatous Polyposis (FAP), also known as familial polyposis coli, is an autosomal dominant condition characterized by the development of hundreds to thousands of adenomatous colorectal polyps [1]. It is caused by a germline mutation in the **APC (Adenomatous Polyposis Coli) gene**, which is located on the long arm of **Chromosome 5 (5q21)**. The APC gene is a tumor suppressor gene that regulates the Wnt signaling pathway; its loss leads to the accumulation of β-catenin, promoting uncontrolled cell proliferation [1]. **2. Why the Other Options are Incorrect:** * **Chromosome 6:** Associated with the **HLA complex** (Major Histocompatibility Complex) and diseases like Hemochromatosis (*HFE* gene). * **Chromosome 11:** Associated with the **WT1 gene** (Wilms tumor) and the **β-globin gene cluster** (Sickle cell anemia, β-thalassemia). * **Chromosome 13:** Associated with the **RB1 gene** (Retinoblastoma) and the **BRCA2 gene** (Breast cancer). **3. Clinical Pearls for NEET-PG:** * **The "100% Rule":** If left untreated, the risk of progression to colorectal carcinoma in FAP patients is virtually **100%** by age 40-50 [1]. * **Gardner Syndrome:** A variant of FAP (also Chromosome 5) presenting with intestinal polyps plus extra-intestinal manifestations like **osteomas** (mandible), epidermal cysts, and desmoid tumors. * **Turcot Syndrome:** Association of colonic polyposis with **CNS tumors** (Medulloblastoma is associated with APC mutations; Glioblastoma with HNPCC/Lynch syndrome). * **Screening:** Proctosigmoidoscopy is recommended starting at age 10-12 years for at-risk family members. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 821-822.

Question 1

A 4-year-old boy presents with extremely pliable skin, easy bruising, and joint hyperextensibility. Biochemical studies show a deficiency of lysyl hydroxylase. What cellular or tissue component abnormalities would most likely be revealed by ultrastructural examination of a skin biopsy from this patient?

Accepted Answer

Collagen fibers

Answer

Actin-myosin filaments

Answer

Glycocalyx

Answer

Intermediate filaments

Question 2

What is the histologic hallmark of Langerhans cells?

Accepted Answer

Birbeck granules

Answer

Dendritic cell processes

Answer

Giant mitochondria

Answer

Eosinophilic granules

Question 3

Which of the following is NOT a cell cycle inhibitor?

Accepted Answer

Cyclin D-CDK4 complex

Answer

P21

Answer

P27

Answer

P16/INK4a

Question 4

Liquefactive necrosis on necrotic tissue results in which of the following?

Accepted Answer

Infarct

Answer

Gangrene

Answer

Embolism

Answer

Caseation

Question 5

Karyotype of Klinefelter syndrome is?

Accepted Answer

47XXY

Answer

45XO

Answer

46XXY

Answer

45XXX

Question 6

MHC restriction is a characteristic of all of the following except:

Accepted Answer

Allograft rejection

Answer

Antiviral cytotoxic T cell response

Answer

Antibacterial helper T cell and cytotoxic cell response

Answer

Autoimmune disorder

Question 7

What is the earliest event in ischemic cardiac myocytes?

Accepted Answer

Loss of contractility

Answer

Microvascular injury

Answer

Irreversible cell injury

Answer

ATP reduction to 50% of normal

Question 8

Which chromosome is associated with familial polyposis coli?

Accepted Answer

Chromosome 5

Answer

Chromosome 6

Answer

Chromosome 11

Answer

Chromosome 13

Question 9

Which cells are primarily involved in humoral immunity?

Accepted Answer

B-cells

Answer

T-cells

Answer

Helper cells

Answer

Dendritic cells

Question 10

Which of the following histological features are characteristic of shock?

Accepted Answer

All of the above

Answer

Acute tubular necrosis (ATN)

Answer

Pulmonary congestion

Answer

Depletion of lipids in adrenal cortex

General Pathology — MCQs

General Pathology — MCQs

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