General Pathology — MCQs

General Pathology Indian Medical PG Practice Questions and MCQs

Question 821: All of the following are features of reversible cell injury, except?

A. Endoplasmic reticulum swelling
B. Karyorrhexis (Correct Answer)
C. Plasma membrane blebbing
D. Detachment of ribosomes

Explanation: ### Explanation The core concept in distinguishing reversible from irreversible cell injury lies in the **integrity of the nucleus and the cell membrane** [1]. **Why Karyorrhexis is the correct answer:** Karyorrhexis refers to the fragmentation of the pyknotic (condensed) nucleus. It is a hallmark of **irreversible cell injury** and cell death (necrosis) [4]. Once the nucleus undergoes significant structural changes—namely **Pyknosis** (clumping), **Karyorrhexis** (fragmentation), or **Karyolysis** (dissolution)—the cell has passed the "point of no return" and cannot recover. **Analysis of Incorrect Options (Features of Reversible Injury):** * **A. Endoplasmic reticulum (ER) swelling:** This occurs due to the failure of ATP-dependent ion pumps, leading to an influx of water (hydropic change) [1]. It is one of the earliest signs of reversible injury [2]. * **C. Plasma membrane blebbing:** While the membrane shows alterations like blebbing or loss of microvilli due to cytoskeletal damage, it remains **intact** [4]. If the membrane ruptures, the injury becomes irreversible [3]. * **D. Detachment of ribosomes:** Reduced ATP leads to the swelling of the ER, which causes ribosomes to detach from the Rough ER, resulting in decreased protein synthesis. This is reversible if oxygenation is restored. **NEET-PG High-Yield Pearls:** 1. **The "Point of No Return":** Irreversible injury is characterized by two main phenomena: the inability to reverse **mitochondrial dysfunction** and profound **disturbances in membrane function** (especially lysosomal and plasma membranes) [3]. 2. **Light Microscopy:** The earliest change visible under a light microscope in reversible injury is **cellular swelling** (cloudy swelling) [2]. 3. **Mitochondrial Changes:** Small, amorphous densities in mitochondria are seen in reversible injury, whereas **large, flocculent, electron-dense deposits** indicate irreversible injury [5]. 4. **Myocardial Infarction:** In cardiac muscle, irreversible injury typically occurs after 20–40 minutes of severe ischemia. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 49-50. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 51-53. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 60-61. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, p. 53. [5] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 53-55.

Question 822: Which of the following statements regarding pyroptosis is not true?

A. NOD-Like receptors play a major role in its initiation.
B. It is a caspase-independent process. (Correct Answer)
C. The cell membrane is damaged.
D. Inflammation is present.

Explanation: **Explanation:** **Pyroptosis** is a unique form of programmed cell death that bridges the gap between apoptosis and necrosis [1]. It is characterized by cell swelling, membrane lysis, and the release of pro-inflammatory cytokines. **Why Option B is the correct answer (False statement):** Pyroptosis is strictly a **caspase-dependent** process [1]. Unlike apoptosis (which involves Caspase 3, 8, and 9), pyroptosis is primarily mediated by **Caspase-1** (canonical pathway) or **Caspase-4, 5, and 11** (non-canonical pathway) [1]. These caspases cleave **Gasdermin D**, the "executioner" protein of pyroptosis, which forms pores in the plasma membrane. **Analysis of other options:** * **Option A (True):** The process is initiated by **NOD-like receptors (NLRs)**, which recognize pathogen-associated molecular patterns (PAMPs) [2]. These receptors assemble into a multi-protein complex called the **Inflammasome**, which activates Caspase-1 [2]. * **Option C (True):** Once Gasdermin D is cleaved, its N-terminal fragments insert into the host cell membrane to form large **pores**. This leads to water influx, osmotic swelling, and eventual membrane rupture. * **Option D (True):** Unlike apoptosis (which is silent), pyroptosis is **highly inflammatory** [1]. The rupture of the cell releases potent inflammatory cytokines like **IL-1β and IL-18**, along with DAMPs, triggering a robust immune response [1]. **NEET-PG High-Yield Pearls:** * **Key Molecule:** Gasdermin D (forms the membrane pore). * **Key Enzyme:** Caspase-1 (also known as IL-1β converting enzyme) [1]. * **Distinction:** It differs from apoptosis because it causes membrane rupture and inflammation; it differs from necrosis because it is a regulated, programmed process [1]. * **Clinical Link:** It plays a major role in the body's defense against intracellular pathogens (e.g., *Salmonella*, *Shigella*) [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 69-71. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of the Immune System, p. 196.

Question 823: Which of the following is NOT affected in Graft-Versus-Host disease?

A. Skin
B. Gastrointestinal tract
C. Liver
D. Lung (Correct Answer)

Explanation: **Explanation:** Graft-Versus-Host Disease (GVHD) occurs when immunocompetent T-cells from a donor graft recognize the recipient's HLA antigens as foreign and initiate an immune attack [1]. This typically occurs in the setting of hematopoietic stem cell transplantation. **Why Lung is the correct answer:** While GVHD is a multisystemic disorder, it characteristically targets epithelial surfaces. The **"Classic Triad"** of organs involved in acute GVHD includes the **Skin, Liver, and Gastrointestinal (GI) tract**. The lungs are generally **not** considered a primary target organ in the acute phase of GVHD [1]. While chronic GVHD can lead to pulmonary complications like *Bronchiolitis Obliterans*, it is not part of the diagnostic triad or the most frequently affected sites. **Analysis of Incorrect Options:** * **Skin (A):** The most common and often earliest manifestation. It typically presents as a maculopapular rash, often starting on the palms, soles, and neck, which can progress to generalized erythroderma [1]. * **Gastrointestinal Tract (B):** Involvement leads to mucosal ulceration, causing profuse watery or bloody diarrhea, abdominal pain, and ileus [1]. * **Liver (C):** Manifests as cholestatic jaundice due to the destruction of small bile ducts, leading to elevated bilirubin and alkaline phosphatase levels [1]. **High-Yield Clinical Pearls for NEET-PG:** * **Acute GVHD:** Occurs within 100 days of transplant. * **Chronic GVHD:** Occurs after 100 days; resembles autoimmune disorders like Scleroderma or Sjögren’s syndrome. * **Prevention:** To prevent GVHD, blood products for immunocompromised patients should be **irradiated** to eliminate donor T-cells. * **Mechanism:** Mediated primarily by **CD4+ and CD8+ T-cells** (Type IV Hypersensitivity). **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 182-183.

Question 824: All of the following are autosomal dominant disorders, except?

A. Neurofibromatosis
B. Ehlers-Danlos syndrome
C. Familial hypercholesterolemia
D. Cystic fibrosis (Correct Answer)

Explanation: **Explanation:** The correct answer is **D. Cystic fibrosis**. **1. Why Cystic Fibrosis is the correct answer:** Cystic fibrosis (CF) is an **autosomal recessive (AR)** disorder [1] caused by a mutation in the *CFTR* gene on chromosome 7 [2]. In AR disorders, both copies of the gene must be mutated for the disease to manifest. These conditions typically involve deficiencies in **enzymes** rather than structural proteins [4]. CF is the most common lethal genetic disease in Caucasian populations [3] and is characterized by thick, viscid secretions affecting the lungs, pancreas, and reproductive system. **2. Why the other options are incorrect:** * **Neurofibromatosis (NF):** Both NF-1 (von Recklinghausen disease) and NF-2 are classic **autosomal dominant (AD)** disorders. NF-1 is caused by mutations in the *NF1* gene on chromosome 17. * **Ehlers-Danlos Syndrome (EDS):** While EDS is a heterogeneous group of disorders, the most common types (like the Classical and Hypermobility types) follow an **autosomal dominant** inheritance pattern, involving defects in collagen synthesis. * **Familial Hypercholesterolemia:** This is one of the most common **autosomal dominant** disorders, involving a mutation in the LDL receptor gene. It is a classic example of **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 150-151. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of Infancy and Childhood, p. 476. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 120-122. [4] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 57-58.

Question 825: Which of the following is NOT a component of the Virchow triad?

A. Endothelial injury
B. Stasis
C. Hypercoagulable states
D. Immunodeficiency (Correct Answer)

Explanation: **Explanation:** The **Virchow Triad** describes the three broad categories of factors that contribute to the formation of a thrombus (thrombogenesis) [1]. This is a foundational concept in vascular pathology. **Why Immunodeficiency is the Correct Answer:** Immunodeficiency refers to a failure of the immune system to protect the body from infection or cancer. While it may predispose a patient to infections that could indirectly lead to inflammation, it is **not** one of the three primary pillars of the Virchow Triad. Therefore, it does not directly contribute to the pathophysiology of thrombus formation. **Analysis of Incorrect Options:** 1. **Endothelial Injury (A):** This is the most important factor in the triad [1]. Damage to the vessel wall (due to trauma, hypertension, or inflammation) exposes subendothelial collagen and tissue factor, triggering platelet adhesion and the coagulation cascade [2]. 2. **Stasis (B):** Abnormal blood flow (stasis or turbulence) prevents the dilution of activated clotting factors and allows platelets to come into contact with the endothelium [1]. This is common in immobilized patients or at sites of aneurysms. 3. **Hypercoagulable States (C):** Also known as thrombophilia, this refers to any alteration of the coagulation pathways (e.g., Factor V Leiden mutation, Protein C/S deficiency, or malignancy) that predisposes the blood to clot [3]. **Clinical Pearls for NEET-PG:** * **Most common cause of inherited hypercoagulability:** Factor V Leiden mutation (resistance to activated Protein C). * **Lines of Zahn:** Microscopic laminations (pale platelet/fibrin layers vs. dark RBC layers) found only in thrombi formed in flowing blood, helping to distinguish a pre-mortem thrombus from a post-mortem clot. * **Trousseau Sign:** Migratory thrombophlebitis associated with visceral malignancies (especially pancreatic cancer), representing a secondary hypercoagulable state [3]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, pp. 132-133. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 142-143. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of Infancy and Childhood, pp. 522-523.

Question 826: Psammoma bodies are seen in which of the following conditions?

A. Necrosis
B. Apoptosis
C. Metastatic calcification
D. Dystrophic calcification (Correct Answer)

Explanation: **Explanation:** **1. Why Dystrophic Calcification is correct:** Psammoma bodies are classic examples of **dystrophic calcification**. This process occurs in dead or dying tissues despite **normal serum calcium and phosphate levels**. Pathologically, it begins with the deposition of calcium salts in mitochondria or membrane-bound vesicles of necrotic cells [4]. Over time, these deposits accumulate in concentric, laminated (onion-skin) layers, forming the characteristic microscopic round, grit-like structures known as Psammoma bodies [1]. **2. Why the other options are incorrect:** * **Necrosis (A):** While dystrophic calcification often occurs *within* areas of necrosis, "Necrosis" itself is a broad process of cell death. Psammoma bodies are a specific morphological manifestation of the calcification that follows, not the necrosis itself [3]. * **Apoptosis (B):** This is programmed cell death involving single cells and typically does not result in the large-scale mineral deposits required to form laminated Psammoma bodies [5]. * **Metastatic Calcification (C):** This occurs in **normal tissues** due to **hypercalcemia** (e.g., hyperparathyroidism) [1]. It typically affects interstitial tissues of the gastric mucosa, kidneys, and lungs, and does not form laminated Psammoma bodies [2]. **3. High-Yield Clinical Pearls for NEET-PG:** To remember the tumors associated with Psammoma bodies, use the mnemonic **"PSaMMoma"**: * **P:** **P**apillary carcinoma of the thyroid * **S:** **S**erous cystadenocarcinoma of the ovary * **M:** **M**eningioma * **M:** **M**esothelioma (Pleural) **Key Distinction:** Dystrophic calcification = Localized, damaged tissue, normal serum calcium. Metastatic calcification = Systemic, normal tissue, elevated serum calcium [1]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 134-135. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 76-77. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 53-55. [4] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 102-103. [5] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 63-64.

Question 827: Aneuploidy is seen with all except:

A. Trisomy of chromosome 18 and 13
B. Trisomy 21
C. Klinefelter syndrome
D. DiGeorge syndrome (Correct Answer)

Explanation: **Explanation:** The core concept tested here is the distinction between **Aneuploidy** and **Microdeletion syndromes**. **1. Why DiGeorge Syndrome is the correct answer:** Aneuploidy refers to a condition where the chromosome number is not an exact multiple of the haploid set (e.g., $2n+1$ or $2n-1$) [3]. **DiGeorge Syndrome** is not a numerical chromosomal abnormality; instead, it is a **microdeletion syndrome** involving a submicroscopic deletion of a specific region on the long arm of chromosome 22 (**22q11.2**) [2]. Because the total number of chromosomes remains 46, it is not classified as aneuploidy. **2. Analysis of Incorrect Options:** * **Trisomy 18 (Edwards) and 13 (Patau):** These are classic examples of autosomal aneuploidy where there is an extra copy of a chromosome ($47, XX/XY, +18$ or $+13$) [1]. * **Trisomy 21 (Down Syndrome):** The most common autosomal aneuploidy ($47, XX/XY, +21$), usually caused by meiotic non-disjunction [1], [4]. * **Klinefelter Syndrome:** A form of sex chromosome aneuploidy ($47, XXY$) [4]. **Clinical Pearls for NEET-PG:** * **DiGeorge Syndrome Mnemonic (CATCH-22):** **C**ardiac defects (Truncus arteriosus/TOF), **A**bnormal facies, **T**hymic hypoplasia (T-cell deficiency), **C**left palate, **H**ypocalcemia (due to parathyroid hypoplasia). * **Diagnosis:** Microdeletions like DiGeorge are too small to be seen on a standard karyotype and require **FISH** (Fluorescence In Situ Hybridization) or chromosomal microarray [2]. * **Most common cause of Aneuploidy:** Meiotic non-disjunction (maternal age is a major risk factor) [4]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 171-172. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, p. 173. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 168-169. [4] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 92-93.

Question 828: What does 'adeno lymphoma' refer to?

A. Adenoid cystic carcinoma
B. Adenoid cystic lymphoma
C. Warthin's tumour (Correct Answer)
D. Pleomorphic adenoma

Explanation: **Explanation:** The term **'Adenolymphoma'** is the historical and descriptive synonym for **Warthin’s tumour** (also known as Papillary Cystadenoma Lymphomatosum). This name is derived from its unique histological appearance, which consists of two distinct components: a double layer of neoplastic **epithelial cells** (forming glandular/cystic structures) and a dense **lymphoid stroma** with germinal centers [1]. **Why Option C is correct:** Warthin’s tumour is the second most common benign salivary gland tumour. It occurs almost exclusively in the **parotid gland**. The "adeno" refers to the glandular epithelium, and "lymphoma" refers to the prominent lymphoid background, though it is a completely benign lesion and not a true malignancy of the immune system [1]. **Analysis of Incorrect Options:** * **A. Adenoid cystic carcinoma:** A common malignant salivary gland tumour characterized by a "Swiss-cheese" (cribriform) pattern. It is known for perineural invasion but lacks the lymphoid stroma of Warthin’s. * **B. Adenoid cystic lymphoma:** This is a non-existent clinical entity; it is a distractor combining terms from other pathologies. * **D. Pleomorphic adenoma:** The most common salivary gland tumour. It is a "mixed tumour" containing epithelial, myoepithelial, and mesenchymal-like (chondromyxoid) components, but it does not feature the characteristic lymphoid-rich papillary architecture of an adenolymphoma. **High-Yield NEET-PG Pearls:** * **Strongest Risk Factor:** Smoking (increases risk 8-fold). * **Location:** Tail of the parotid gland (most common). * **Key Feature:** It is the most common salivary gland tumour to present **bilaterally** or multicentrically (10% of cases). * **Hot Spot:** Shows increased uptake on **Technetium-99m pertechnetate scan** (Hot tumour). * **Demographics:** Traditionally more common in older males. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Head and Neck, p. 753.

Question 829: Examine the above pedigree chart. Which one of the following diseases is the most likely for this situation?

A. Neurofibromatosis
B. Beta-thalassemia (Correct Answer)
C. Colour blindness
D. Vitamin D resistant rickets

Explanation: ***Beta-thalassemia*** - Shows classic **autosomal recessive** inheritance pattern with **unaffected carrier parents** producing affected offspring, demonstrating **equal sex distribution** among affected individuals. - Consistent with the pedigree showing **affected children from consanguineous marriages** and **horizontal inheritance** pattern typical of recessive disorders. *Neurofibromatosis* - Follows **autosomal dominant** inheritance pattern where affected individuals would have at least **one affected parent** in each generation. - Would show **vertical transmission** through generations with approximately **50% risk** to offspring of affected individuals, which contradicts the pedigree pattern. *Colour blindness* - Demonstrates **X-linked recessive** inheritance with **male predominance** and affected males having **unaffected parents** but **carrier mothers**. - Would show characteristic pattern of **affected grandfathers** passing the trait through **carrier daughters** to affected grandsons, not the equal sex distribution seen. *Vitamin D resistant rickets* - Exhibits **X-linked dominant** inheritance where **affected males** pass the condition to **all daughters** but **no sons**. - Would demonstrate **no male-to-male transmission** and affected females having **50% risk** regardless of offspring sex, inconsistent with this pedigree.

Question 830: Trisomy 13 is identified as:

A. Edward's syndrome
B. Patau's syndrome (Correct Answer)
C. Down's syndrome
D. Klinefelter's syndrome

Explanation: **Explanation:** **Trisomy 13** is clinically known as **Patau’s syndrome** [1]. It is a severe chromosomal abnormality characterized by the presence of an extra copy of chromosome 13. This occurs primarily due to meiotic non-disjunction, often associated with advanced maternal age [2]. **Analysis of Options:** * **Patau’s syndrome (Trisomy 13):** The correct answer. It is characterized by the "classic triad" of **Microphthalmia** (small eyes), **Cleft lip/palate**, and **Polydactyly** (extra fingers/toes). Other features include holoprosencephaly and "rocker-bottom" feet. * **Edward’s syndrome (Trisomy 18):** This involves an extra copy of chromosome 18 [1]. Key features include micrognathia (small jaw), low-set ears, and a characteristic **clenched hand** with overlapping fingers. * **Down’s syndrome (Trisomy 21):** The most common autosomal trisomy [2]. It presents with intellectual disability, flat facial profile, epicanthal folds [4], Simian crease, and an increased risk of Hirschsprung disease [3] and early-onset Alzheimer’s. * **Klinefelter’s syndrome (47, XXY):** This is a sex chromosome aneuploidy (not an autosomal trisomy). It affects males and is characterized by testicular atrophy, gynecomastia, and infertility. **High-Yield Clinical Pearls for NEET-PG:** * **Mnemonic for Trisomies:** **P**atau (13), **E**dward (18), **D**own (21) — remember them in increasing order of chromosome number as **P-E-D**. * **Rocker-bottom feet:** Seen in both Patau’s and Edward’s syndromes. * **Cutis Aplasia:** A high-yield specific finding for Patau’s syndrome (localized absence of skin on the scalp). * **Screening:** First-semester screening typically shows decreased PAPP-A and increased hCG in Down’s, but **decreased** PAPP-A and hCG in both Trisomy 13 and 18. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 171-172. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 92-93. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 94-95. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 170-171.

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