{"id":1117,"date":"2023-06-07T13:42:00","date_gmt":"2023-06-07T13:42:00","guid":{"rendered":"https:\/\/www.osmosis.org\/blog\/?p=1117"},"modified":"2025-10-01T11:39:31","modified_gmt":"2025-10-01T19:39:31","slug":"usmle-step-1-question-of-the-day-turner-syndrome","status":"publish","type":"post","link":"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome","title":{"rendered":"USMLE\u00ae Step 1 Question of the Day: Turner syndrome"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_80 ez-toc-wrap-center counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">In This Article<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#The_correct_answer_to_todays_USMLE%C2%AE_Step_1_Question_is%E2%80%A6\" >The correct answer to today&#8217;s USMLE\u00ae Step 1 Question is&#8230;<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#A_Nondisjunction_event_during_meiosis\" >A. Nondisjunction event during meiosis<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#Incorrect_answer_explanations\" >Incorrect answer explanations<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#B_Nondisjunction_event_during_mitosis\" >B. Nondisjunction event during mitosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#C_Partial_loss_of_chromosome_during_mitosis\" >C. Partial loss of chromosome during mitosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#D_Nondisjunction_resulting_in_Trisomy_21\" >D. Nondisjunction resulting in Trisomy 21<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#E_Nondisjunction_resulting_in_Trisomy_18\" >E. Nondisjunction resulting in Trisomy 18<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#Main_Explanation\" >Main Explanation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\/#Major_Takeaway\" >Major Takeaway<\/a><\/li><\/ul><\/nav><\/div>\n\n<p class=\"wp-block-paragraph\"><strong><em>This week, we are sharing another USMLE\u00ae Step 1-style practice question to test your knowledge of medical topics.&nbsp;<\/em><\/strong><strong><em>Today&#8217;s case focuses on a 5-month-old female infant that is admitted to the pediatric intensive care unit for surgical treatment of preductal coarctation of the aorta. During subsequent evaluation, the patient is found to have a horseshoe kidney as well as lymphedema affecting the hands and feet. The patient has low set ears. Which of the following is the most likely genetic aberration that led to this patient\u2019s presentation?&nbsp;<\/em><\/strong><strong><em>Can you figure it out?<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A 5-month-old female infant is admitted to the pediatric intensive care unit for surgical treatment of preductal coarctation of the aorta. The patient is stable and afebrile. Blood pressure is 70\/50 mmHg, and respiratory rate is 34\/min. During subsequent evaluation, the patient is found to have a horseshoe kidney as well as lymphedema affecting the hands and feet. The patient has low set ears. Which of the following is the most likely genetic aberration that led to this patient\u2019s presentation?<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>A. Nondisjunction event during meiosis<\/strong><strong>B. Nondisjunction event during mitosis<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>C. Partial loss of chromosome during mitosis<br><\/strong><br><strong>D. Nondisjunction resulting in Trisomy 21<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>E. Nondisjunction resulting in Trisomy 18<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Scroll down to find the answer!<em>&nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;<\/em><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_correct_answer_to_todays_USMLE%C2%AE_Step_1_Question_is%E2%80%A6\"><\/span>The correct answer to today&#8217;s USMLE\u00ae Step 1 Question is&#8230;<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"A_Nondisjunction_event_during_meiosis\"><\/span>A. Nondisjunction event during meiosis<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Before we get to the Main Explanation, let&#8217;s look at the incorrect answer explanations. Skip to the bottom if you want to see the correct answer right away!<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Incorrect_answer_explanations\"><\/span>Incorrect answer explanations<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The incorrect answers to today&#8217;s USMLE\u00ae Step 1 Question are&#8230;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"B_Nondisjunction_event_during_mitosis\"><\/span>B. Nondisjunction event during mitosis<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:&nbsp;<\/strong>While this event would also result in Turner syndrome, it would result in a mosaic form of the condition. The mosaic form of Turner syndrome has far less severe symptoms due to the expression of normal 46 XX chromosomes in some cells. In contrast, the patient in this vignette has multiple congenital abnormalities and likely has a uniform genotype of 45 XO within all cells.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"C_Partial_loss_of_chromosome_during_mitosis\"><\/span>C. Partial loss of chromosome during mitosis<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:&nbsp;<\/strong>This event would also result in a mosaic form of Turner syndrome, which is far less severe due to the expression of normal 46 XX chromosomes in some cells. This patient has the severe form, as demonstrated by the multiple congenital abnormalities, and likely has a uniform genotype of 45 XO within all cells.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"D_Nondisjunction_resulting_in_Trisomy_21\"><\/span>D. Nondisjunction resulting in Trisomy 21<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Individuals with Trisomy 21 can present with low set ears, a single palmar crease, short ears, and short neck. While individuals with trisomy 21 may develop cardiac defects (e.g. atrioventricular septal defects), the condition is not typically associated with coarctation of the aorta.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"E_Nondisjunction_resulting_in_Trisomy_18\"><\/span>E. Nondisjunction resulting in Trisomy 18<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:\u00a0<\/strong>Edwards syndrome can present with clenched hands, an abnormally small head, underdeveloped jaw, and rocker bottom feet. However, the condition would not typically present with the combination of coarctation of the aorta, lymphedema, and horseshoe kidney.<a href=\"https:\/\/www.osmosis.org\/plans\/md\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/www.osmosis.org\/plans\/md\"><img loading=\"lazy\" decoding=\"async\" width=\"700\" height=\"250\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_04673a.png?w=700\" alt=\"\" class=\"wp-image-926\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_04673a.png 700w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_04673a.png?resize=300,107 300w\" sizes=\"auto, (max-width: 700px) 100vw, 700px\" \/><\/a><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Main_Explanation\"><\/span><strong>Main Explanation<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">This vignette describes a female infant with several congenital anomalies, namely&nbsp;<strong>preductal coarctation of the aorta, horseshoe kidney<\/strong>, and&nbsp;<strong>lymphedema<\/strong>. These findings are suggestive of Turner syndrome.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Answering this question requires an understanding of the different types of chromosomal abnormalities present within&nbsp;<strong>Turner<\/strong>&nbsp;syndrome (see table below). A complete lack of Y chromosomal inheritance, which often occurs due to a nondisjunction during&nbsp;<strong>meiosis<\/strong>&nbsp;of the paternal gamete, would lead to the&nbsp;<strong>45 XO<\/strong>&nbsp;genotype. Affected patients will present with the most severe form of Turner syndrome and likely have multiple congenital anomalies, as in the case of this patient.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In contrast, if Turner syndrome were to develop due to nondisjunction during&nbsp;<strong>mitosis<\/strong>, then&nbsp;<strong>chromosomal mosaicism<\/strong>&nbsp;would develop. Chromosomal mosaicism means that different cells in the patient\u2019s body will have varying genotypes (e.g., 45 XO, 46 XX).Clinical features of Turner syndrome include a&nbsp;<strong>female phenotype<\/strong>&nbsp;with&nbsp;<strong>webbed neck, shield chest<\/strong>, short stature, lymphedema, nail dysplasia, and high-arched palate. Turner syndrome presents with gonadal dysgenesis and&nbsp;<strong>streak ovaries<\/strong>, which results in insufficient estrogen production. As a result, patients can have delayed puberty, primary amenorrhea, osteoporosis, and infertility. Furthermore, patients are at risk for&nbsp;<strong>coarctation of the aorta and renal malformations<\/strong>.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" height=\"586\" width=\"1024\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/table-turner-syndrome.jpg?w=1024\" alt=\"table of turner syndrome effects and karyotype\" class=\"wp-image-1119\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/table-turner-syndrome.jpg 1294w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/table-turner-syndrome.jpg?resize=300,172 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/table-turner-syndrome.jpg?resize=768,439 768w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/table-turner-syndrome.jpg?resize=1024,586 1024w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Major_Takeaway\"><\/span><strong>Major Takeaway<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Turner syndrome<\/strong>&nbsp;can be caused by&nbsp;<strong>nondisjunction<\/strong>&nbsp;during meiosis or mitosis, leading to a 45 XO or mosaic 45 XO\/46 XX karyotype, respectively. There are many developmental abnormalities associated with Turner syndrome, including a&nbsp;<strong>webbed neck, shield chest, streak ovaries, coarctation of the aorta<\/strong>, and&nbsp;<strong>renal malformations<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>References<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Kesler, S.R. (2007) Turner syndrome. Child and Adolescent Psychiatric Clinics of North America. 16(3), 709-722. Doi: 10.1016\/j.chc.2007.02.004.Kikkeri, N.S., Nagalli, S. (2021) \u201cTurner syndrome\u201d. StatPearls [Internet]. Web Address:\u00a0<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554621\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554621\/<\/a>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>_________________________<\/strong><br><br><strong>Want more USMLE\u00ae Step 1 practice questions? Try Osmosis today! Access your\u00a0<em><strong><a href=\"https:\/\/www.osmosis.org\/login?type=create\" target=\"_blank\" rel=\"noreferrer noopener\">free trial<\/a><\/strong><\/em>\u00a0and find out why millions of current and future clinicians and caregivers love learning with us.<\/strong><\/em><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/www.osmosis.org\/ultimate-guide\/usmle-step-1\"><img loading=\"lazy\" decoding=\"async\" width=\"700\" height=\"250\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/the-ultimate-guide-usmle-step-1-banner.png?w=700\" alt=\"\" class=\"wp-image-760\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/the-ultimate-guide-usmle-step-1-banner.png 700w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/the-ultimate-guide-usmle-step-1-banner.png?resize=300,107 300w\" sizes=\"auto, (max-width: 700px) 100vw, 700px\" \/><\/a><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><em><em><sub>The United States Medical Licensing Examination (USMLE\u00ae) is a joint program of the Federation of State Medical Boards (FSMB\u00ae) and National Board of Medical Examiners (NBME\u00ae). Osmosis is not affiliated with NBME nor FSMB.&nbsp;<\/sub><\/em><\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This week, we are sharing another USMLE\u00ae Step 1-style practice question to test your knowledge of medical topics.&nbsp;Today&#8217;s case focuses on a 5-month-old female infant that is admitted to the pediatric intensive care unit for surgical treatment of preductal coarctation of the aorta. During subsequent evaluation, the patient is found to have a horseshoe kidney [&hellip;]<\/p>\n","protected":false},"author":202,"featured_media":1118,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[27,20,1369,44],"tags":[],"class_list":["post-1117","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medicine","category-exam-prep","category-step-1-questions","category-step-1"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>USMLE\u00ae Step 1 Question of the Day: Turner syndrome - Osmosis Blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"USMLE\u00ae Step 1 Question of the Day: Turner syndrome - Osmosis Blog\" \/>\n<meta property=\"og:description\" content=\"This week, we are sharing another USMLE\u00ae Step 1-style practice question to test your knowledge of medical topics.&nbsp;Today&#8217;s case focuses on a 5-month-old female infant that is admitted to the pediatric intensive care unit for surgical treatment of preductal coarctation of the aorta. During subsequent evaluation, the patient is found to have a horseshoe kidney [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\" \/>\n<meta property=\"og:site_name\" content=\"Osmosis Blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-06-07T13:42:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2025-10-01T19:39:31+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/usmle-turner-syndrome.webp\" \/>\n\t<meta property=\"og:image:width\" content=\"1081\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/webp\" \/>\n<meta name=\"author\" content=\"Marina Horiates Kerekes, MD &amp; Team\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":[\"Article\",\"BlogPosting\"],\"@id\":\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-turner-syndrome\"},\"author\":{\"name\":\"Marina Horiates Kerekes, MD &amp; 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