WBR0311
| Author | PageAuthor::William J Gibson |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics |
| Sub Category | SubCategory::Hematology, SubCategory::General Principles |
| Prompt | [[Prompt::A 5 month old female is evaluated in a well child visit. The child was born without complications via vaginal delivery to a gravida 2 para 2, 39 year old woman.The child has skin folds covering the inner angle of the eye, a flat nasal bridge, and small chin; her feet are pictured below. Which of the following is the child at increased risk of?
|
| Answer A | AnswerA::Acute Lymphoblastic Leukemia |
| Answer A Explanation | AnswerAExp::'''Correct:''' Patients with Down Syndrome are at an increased risk of ALL and AML. |
| Answer B | AnswerB::Atherosclerosis |
| Answer B Explanation | AnswerBExp::'''Incorrect:''' Down Syndrome patients tend to have a decreased risk of atherosclerosis. Other cardiovascular abnormalities are associated with Down syndrome including endocardial cushion defects and atrial septal defects. |
| Answer C | AnswerC::Crohn’s disease |
| Answer C Explanation | AnswerCExp::'''Incorrect:''' Down syndrome is not associated with an increased risk of Crohn’s disease. Other gastrointestinal abnormalities are associated with Down syndrome including: duodenal atresia, annular pancreas and imperforate anus. |
| Answer D | AnswerD::Lung cancer |
| Answer D Explanation | AnswerDExp::'''Incorrect:''' Down syndrome patients have a markedly decreased risk of most solid tumors except for testicular cancer. |
| Answer E | AnswerE::Hyperthyroidism |
| Answer E Explanation | AnswerEExp::'''Incorrect:''' Down syndrome patients have no increased risk of hyperthyroidism. These patients are at an increased risk of hypothyroidism (one third of patients). |
| Right Answer | RightAnswer::A |
| Explanation | [[Explanation::The patient in this vignette has Down syndrome. Down syndrome is a chromosomal abnormality caused by an extra copy of chromosome 21. It is typically associated with physical growth delays, a particular set of facial characteristics and a severe degree of intellectual disability. Some of the physical characteristics of Down syndrome include:
Down syndrome is most often caused by meiotic nondisjunction, which occurs during meiosis I. Approximately 2-3% of cases are caused by Robertsonian translocation. On quad screen, Down syndrome is associated with decreased AFP, increased beta-HCG, decreased estriol and increased inhibin A. Wiki-mnemomic: AFP goes DOWN in Down syndrome. Educational Objective: Down syndrome is associated with an increased risk of ALL. References: First Aid 2012 page 93. |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |
