NEET-PG 2013 - Psychiatry PYQs Practice Questions

Q: What is the chance of a child having cystic fibrosis if both parents are carriers of the disease?

25%. ***50%*** - If one parent is affected by cystic fibrosis (CF), they are **homozygous for the CFTR mutation**, while the normal parent is likely **homozygous for the normal allele**. - Each child has a **50% chance** of inheriting the **mutated allele** from the affected parent, resulting in an **autosomal recessive** inheritance pattern [1]. *70%* - This percentage does not reflect the inheritance probabilities associated with **autosomal recessive traits** [1], such as cystic fibrosis. - In heterozygous and normal arrangements, the calculation does not support a **70%** inheritance chance of the disease. *80%* - Similarly, an **80% chance** is inaccurate as cystic fibrosis requires two mutated alleles for the disease to manifest [1]. - The inheritance pattern does not allow for a higher than **50% chance** when one parent is normal. *25%* - A **25% chance** applies if both parents were carriers of the CFTR mutation [1]. However, with only one affected parent, this percentage does not apply. - The maximum **chance of inheritance** from one affected and one normal parent is accurately stated as **50%**. **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. 53-54. [Practice more Psychiatry PYQs on OnCourse]

Q: Which of the following is not a characteristic of Fragile X syndrome?

Large nose. **Large nose** - **Large nose** is generally not considered a characteristic feature of **Fragile X syndrome**. - While individuals with Fragile X syndrome have distinct facial features, a prominent or large nose is not typically among them. *Large head* - **Macrocephaly** (large head circumference) is a recognized physical feature in many individuals with **Fragile X syndrome**. - This characteristic often becomes more apparent in infancy and childhood. *Large ear* - **Large, prominent ears** are a very common and classic physical characteristic observed in individuals with **Fragile X syndrome**. - This feature is often noted during developmental assessments. *Large testis* - **Macro-orchidism** (enlarged testes) is a hallmark physical characteristic of **Fragile X syndrome** in post-pubertal males. - This is a highly specific finding and a key diagnostic pointer for the syndrome in adolescent and adult males. *Long narrow face* - **Long, narrow face** with a prominent forehead and jaw is a typical facial feature of **Fragile X syndrome**. - This characteristic facial appearance is part of the recognizable phenotype of the syndrome. [Practice more Psychiatry PYQs on OnCourse]

Q: What is the name of the syndrome associated with the deletion of chromosome 22?

Di George syndrome. ***Di George syndrome*** - Di George syndrome, also known as **22q11.2 deletion syndrome**, is caused by a deletion on the long arm of chromosome 22. - This syndrome is associated with varied clinical features, including **congenital heart defects**, **thymic hypoplasia** (leading to immune deficiencies), **hypocalcemia** due to parathyroid hypoplasia, and characteristic facial features. *Down syndrome* - Down syndrome is caused by a **trisomy of chromosome 21**, meaning there's an extra copy of chromosome 21. - It is characterized by intellectual disability, distinctive facial features, and developmental delays, and is not associated with chromosome 22 deletion. *Turner syndrome* - Turner syndrome is a chromosomal condition affecting females, characterized by the partial or complete absence of one of the **X chromosomes (45, X0)**. - It leads to short stature, ovarian dysfunction, and characteristic physical features, unrelated to chromosome 22. *Klinefelter syndrome* - Klinefelter syndrome is a chromosomal disorder in males resulting from an extra **X chromosome (47, XXY)**. - Individuals often experience hypogonadism, reduced fertility, and abnormal body proportions, which is distinct from a deletion on chromosome 22. *Prader-Willi syndrome* - Prader-Willi syndrome is caused by a **deletion of paternal chromosome 15q11-q13** or maternal uniparental disomy. - It presents with hypotonia, hyperphagia, obesity, intellectual disability, and hypogonadism, unrelated to chromosome 22 deletion. [Practice more Psychiatry PYQs on OnCourse]

Q: Which of the following is not a typical symptom of Duchenne Muscular Dystrophy (DMD)?

Tenderness in muscles. ***Tenderness in muscles*** - **Muscle tenderness** and pain are **not typical primary symptoms** of Duchenne Muscular Dystrophy (DMD); the disease is characterized by progressive muscle weakness without significant pain. - While some discomfort might arise from muscle spasms or joint issues, widespread tenderness is characteristic of inflammatory conditions, not DMD. *Muscle pseudo hypertrophy* - **Pseudohypertrophy**, particularly in the calves, is a **hallmark sign** of DMD, caused by the replacement of muscle tissue with fat and connective tissue, making the muscles appear larger but weaker. - This symptom reflects the underlying muscle degeneration in DMD. *Muscle weakness* - **Progressive muscle weakness** is the defining characteristic of DMD, typically starting in the proximal muscles and leading to significant functional impairment. - This weakness is due to the lack of **dystrophin**, which is crucial for muscle fiber integrity. *Cardiomyopathy* - **Cardiomyopathy** is a **common and serious complication** of DMD, affecting nearly all patients by adolescence or early adulthood due to the absence of dystrophin in cardiac muscle. - It often manifests as **dilated cardiomyopathy**, contributing significantly to morbidity and mortality. *Gower's sign* - **Gower's sign** is a **classic clinical manifestation** of DMD, where the child uses their hands to "walk up" their legs when rising from the floor due to proximal muscle weakness. - This sign typically appears early in the disease course and is a key diagnostic indicator. [Practice more Psychiatry PYQs on OnCourse]

Q: In which condition is the presence of an extra pair of ribs sometimes observed?

Turner syndrome. ***Turner syndrome*** - **Turner syndrome** (45,X) is often associated with skeletal abnormalities, including an extra pair of ribs (cervical ribs) in some cases. - Other common skeletal features include **short stature**, a **shield chest**, and **cubitus valgus**. *Down syndrome* - **Down syndrome** (trisomy 21) is characterized by specific facial features, intellectual disability, and congenital heart defects. - While it can manifest with various skeletal anomalies, an extra pair of ribs is not a characteristic feature. *Klinefelter syndrome* - **Klinefelter syndrome** (47,XXY) is characterized by hypogonadism, tall stature, gynecomastia, and learning difficulties. - Skeletal features may include long limbs and decreased bone density, but cervical ribs are not typically associated with this condition. *Holt-Oram syndrome* - **Holt-Oram syndrome** is a genetic disorder affecting heart and limb development, specifically the upper limbs (thumb abnormalities, phocomelia). - It does not typically involve the presence of an extra pair of ribs. *Fibrous dysplasia* - **Fibrous dysplasia** is a bone disorder where normal bone is replaced by fibrous tissue, leading to weakened bone and fractures. - It is a localized bone condition and does not involve the presence of supernumerary ribs. [Practice more Psychiatry PYQs on OnCourse]

Question 1

What is the chance of a child having cystic fibrosis if both parents are carriers of the disease?

Accepted Answer

25%

Answer

75%

Answer

50%

Answer

0%

Answer

100%

Question 2

Which of the following is not a characteristic of Fragile X syndrome?

Accepted Answer

Large nose

Answer

Large ear

Answer

Large testis

Answer

Large head

Answer

Long narrow face

Question 3

What is the name of the syndrome associated with the deletion of chromosome 22?

Accepted Answer

Di George syndrome

Answer

Down syndrome

Answer

Turner syndrome

Answer

Klinefelter syndrome

Answer

Prader-Willi syndrome

Question 4

Which of the following is not a typical symptom of Duchenne Muscular Dystrophy (DMD)?

Accepted Answer

Tenderness in muscles

Answer

Muscle pseudo hypertrophy

Answer

Muscle weakness

Answer

Cardiomyopathy

Answer

Gower's sign

Question 5

In which condition is the presence of an extra pair of ribs sometimes observed?

Accepted Answer

Turner syndrome

Answer

Down syndrome

Answer

Holt-Oram syndrome

Answer

Fibrous dysplasia

Answer

Klinefelter syndrome

Question 6

Which of the following is not typically associated with Treacher Collins syndrome?

Accepted Answer

Choanal atresia

Answer

Conductive deafness

Answer

Cleft palate

Answer

Mandibular hypoplasia

Answer

Malar hypoplasia

NEET-PG 2013 — Psychiatry