Practice Exam-Systems Based Disorders I and II

Systems Based Disorders I and II

Pdf Summary

The GGRC Practice Exam for Systems-Based Disorders I and II features various medical scenarios and related questions. Key topics include genetic counseling in families with a history of hypertrophic cardiomyopathy, most likely genetic etiologies for specific clinical presentations, and genetic recurrence risks in conditions like autism spectrum disorder.<br /><br />In Question 37, a 22-year-old male is evaluated for genetic risk after his brother died of hypertrophic cardiomyopathy. Despite an uncertain MYBPC3 gene variant, the best recommendation is periodic cardiac surveillance every 3-5 years due to incomplete age-dependent penetrance, based on the guidelines for hypertrophic cardiomyopathy diagnosis and treatment.<br /><br />Question 36 involves a 5-year-old girl whose symptoms suggest Prader-Willi Syndrome, linked to a paternal deletion in the 15q11.2q13 region. The correct etiological genetic pathway focuses on imprinted genetic regions associated with such clinical features.<br /><br />In Question 35, a couple inquiries about the recurrence risk of autism after having one child diagnosed with the disorder. The empiric recurrence risk is estimated at 5-10% without an identifiable genetic cause, reflecting autism's polygenic and multifactorial nature.<br /><br />Additional cases discuss specific syndromes such as Alagille Syndrome (paucity of bile ducts, facial features, and pulmonary artery stenosis) and Chediak-Higashi Syndrome (neutropenia with giant intracellular granules).<br /><br />From Systems-Based Disorders II, questions address hereditary conditions like hereditary hemorrhagic telangiectasia, characterized by recurrent epistaxis and telangiectases, and the importance of pulmonary and cerebral AVM screenings before pregnancy.<br /><br />Finally, a 6-year-old boy experiencing prolonged bleeding post-dental extraction leads to an identification of Hemophilia A, linked to an X-linked recessive inheritance pattern, confirming the condition's genetic pathway and familial risk considerations.<br /><br />The document offers insights into genetic conditions, diagnostic protocols, and familial risk management strategies, supported by authoritative references.

Keywords

genetic counseling

hypertrophic cardiomyopathy

autism spectrum disorder

Prader-Willi Syndrome

MYBPC3 gene

Alagille Syndrome

Chediak-Higashi Syndrome

hereditary hemorrhagic telangiectasia

Hemophilia A

genetic recurrence risk