Question 1

Q: Which of the following conditions is characterized by webbing of the neck, short stature, increased carrying angle, low posterior hairline, primary amenorrhea, and short fourth metacarpal?

Turner syndrome. ***Turner syndrome*** - Characterized by **webbing of the neck**, **short stature**, and **primary amenorrhea**, which are classic features of Turner syndrome [1][2]. - The presence of a **short fourth metacarpal** is also a specific skeletal manifestation associated with this condition. - **Short stature** in Turner syndrome is specifically explained by haploinsufficiency of the SHOX gene [1]. *Noonan syndrome* - Presents with features like **short stature** and **cardiac anomalies**, but lacks the specific manifestations of neck webbing and primary amenorrhea. - Typically associated with facial dysmorphisms, such as **widely spaced eyes** and a **distinctive appearance** which are not mentioned here. *Klinefelter syndrome* - Characterized by **47,XXY** karyotype leading to **gynecomastia** and **testicular atrophy**, rather than symptoms like webbed neck or short stature. - Men with this syndrome usually display **delayed or incomplete puberty**, not primary amenorrhea. *Cri-du-chat syndrome* - Primarily associated with a **distinctive high-pitched cry** and developmental delays, rather than physical traits like webbed neck or short fourth metacarpal. - Symptoms are more related to **chromosomal deletion** and do not include amenorrhea or features typical of Turner syndrome. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 175-177. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 173-174. [Practice more Psychiatry PYQs on OnCourse]

Question

Which of the following conditions is characterized by webbing of the neck, short stature, increased carrying angle, low posterior hairline, primary amenorrhea, and short fourth metacarpal?

Accepted Answer

Turner syndrome

Answer

Klinefelter syndrome

Answer

Cri-du-chat syndrome

Answer

Noonan syndrome

Answer

Down syndrome

INI-CET 2009 — Psychiatry