{"id":1863,"date":"2024-01-03T13:55:00","date_gmt":"2024-01-03T13:55:00","guid":{"rendered":"https:\/\/www.osmosis.org\/blog\/?p=1863"},"modified":"2025-10-01T11:39:32","modified_gmt":"2025-10-01T19:39:32","slug":"usmle-step-1-question-of-the-day-fragile-x-syndrome","status":"publish","type":"post","link":"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-fragile-x-syndrome","title":{"rendered":"USMLE\u00ae Step 1 Question of the Day: Fragile X 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-fragile-x-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-fragile-x-syndrome\/#A\" >A.<\/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-fragile-x-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-fragile-x-syndrome\/#B\" >B.<\/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-fragile-x-syndrome\/#C\" >C.<\/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-fragile-x-syndrome\/#D\" >D.<\/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-fragile-x-syndrome\/#E\" >E.<\/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-fragile-x-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-fragile-x-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. Today&#8217;s case focuses on a 6-year-old adopted boy diagnosed with autism spectrum disorder and Fragile X syndrome. Delve into the discussion with the physician, exploring the family pedigrees that unravel the genetic roots of this young patient&#8217;s unique medical history. Test your diagnostic skills with this USMLE Step 1 question.<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A 6-year-old adopted boy is brought to the physician to discuss his genetic testing results. The child had been having difficulties communicating with others in the classroom and was subsequently diagnosed with autism spectrum disorder and an intellectual disability. The genetic testing confirms a diagnosis of Fragile X syndrome. Which of the following family pedigrees represents this patient\u2019s biological family history? (Arrows indicating the patient).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>A.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"842\" height=\"340\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075805.945.png\" alt=\"\" class=\"wp-image-1866\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075805.945.png 842w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075805.945.png?resize=300,121 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075805.945.png?resize=768,310 768w\" sizes=\"auto, (max-width: 842px) 100vw, 842px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>B.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"834\" height=\"378\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075826.570.png\" alt=\"\" class=\"wp-image-1867\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075826.570.png 834w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075826.570.png?resize=300,136 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T075826.570.png?resize=768,348 768w\" sizes=\"auto, (max-width: 834px) 100vw, 834px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>C.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"820\" height=\"368\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_3f8909.png\" alt=\"\" class=\"wp-image-1870\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_3f8909.png 820w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_3f8909.png?resize=300,135 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_3f8909.png?resize=768,345 768w\" sizes=\"auto, (max-width: 820px) 100vw, 820px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>D.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"834\" height=\"378\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_9e1d9c.png\" alt=\"\" class=\"wp-image-1868\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_9e1d9c.png 834w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_9e1d9c.png?resize=300,136 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_9e1d9c.png?resize=768,348 768w\" sizes=\"auto, (max-width: 834px) 100vw, 834px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><h3 style=\"font-family: Nunito;font-size: 20px;margin-top: 20px;margin-bottom: 20px;line-height: 1.4;font-weight: 600\"><\/h3><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>E.&nbsp;<\/strong><img decoding=\"async\" src=\"https:\/\/osmose-it.s3.amazonaws.com\/8n6NVB0xTDOiFOGHg-dUEzMRQTianAKa\/_.png\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Scroll down for the correct answer!<\/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\"><\/span>A.<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"834\" height=\"378\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_a21246.png\" alt=\"\" class=\"wp-image-1876\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_a21246.png 834w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_a21246.png?resize=300,136 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_a21246.png?resize=768,348 768w\" sizes=\"auto, (max-width: 834px) 100vw, 834px\" \/><\/figure>\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"B\"><\/span>B.<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"834\" height=\"378\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_d8497c.png\" alt=\"\" class=\"wp-image-1880\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_d8497c.png 834w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_d8497c.png?resize=300,136 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_d8497c.png?resize=768,348 768w\" sizes=\"auto, (max-width: 834px) 100vw, 834px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">This family pedigree represents an X-linked recessive disorder, given that the males in the tree express the disease, and females are carriers. Fragile X syndrome is X-linked dominant.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"C\"><\/span>C.<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"820\" height=\"368\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_ece198.png\" alt=\"\" class=\"wp-image-1881\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_ece198.png 820w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_ece198.png?resize=300,135 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_ece198.png?resize=768,345 768w\" sizes=\"auto, (max-width: 820px) 100vw, 820px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;In this pedigree, each female transmits the mutation to all of her children (males and females), while males do not transmit the disease to their offspring. This pattern occurs in mitochondrial disorders. Fragile X syndrome is instead inherited with an X-linked dominant pattern.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"D\"><\/span>D.<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"834\" height=\"378\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_24c699.png\" alt=\"\" class=\"wp-image-1883\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_24c699.png 834w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_24c699.png?resize=300,136 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_24c699.png?resize=768,348 768w\" sizes=\"auto, (max-width: 834px) 100vw, 834px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;In this pedigree, males and females express the disease equally, and it does not skip generations\u2013reflective of an autosomal dominant pattern. Fragile X Syndrome is an X-linked dominant disorder, and males cannot transmit the disease to their male offspring (i.e. no male-to-male transmission).<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"E\"><\/span>E.<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"834\" height=\"350\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_c2214d.png\" alt=\"\" class=\"wp-image-1884\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_c2214d.png 834w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_c2214d.png?resize=300,126 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/image_c2214d.png?resize=768,322 768w\" sizes=\"auto, (max-width: 834px) 100vw, 834px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;This pattern reveals skipping of generations, and the condition affects both males and females almost equally. This pattern is characteristic of autosomal recessive disorders. Fragile X syndrome is instead inherited with an X-linked dominant pattern.<\/p>\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<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/osmose-it.s3.amazonaws.com\/mhqdldLxTPqltl7GkTFZHLt0Q0usv_JZ\/_.png\" alt=\"x-linked dominant inheritance ilustration\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">This adopted child is found to have Fragile X syndrome, which is an X-linked dominant disorder that results from the trinucleotide repeat expansion of cytosine-guanine-guanine (CGG) on the X chromosome, which silences the Fragile X Mental Retardation 1 gene (FMR1).&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">X-linked dominant disorders refer to genetic mutations on the X-chromosome where only one copy of the mutated gene in the cell is sufficient to cause disease. Transmission of X-linked dominant disorders depends on which of the parents carry the mutated gene. If the father is affected (i.e. his only X chromosome has the mutation), then all of his female children will be affected by the disease. However, because the father gives away the Y chromosome for his male children, X-linked disorders cannot be transmitted from the father to his male children.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">On the other hand, if the mother has an X-linked dominant disorder, there is a 50% chance that the mutated X chromosome will be transmitted to her offspring and a 50% chance of transmitting the normal copy of the X chromosome. Therefore, all of her children (males and females) have a 50% chance of having the disease.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In addition, it is important to note that trinucleotide repeat expansion disorders such as FGS exhibit anticipation \u2013 meaning with subsequent generations, the number of repeats will increase, so the symptoms of FGS will grow more pronounced as the mutation is passed down through generations.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"860\" height=\"564\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T081159.079.png\" alt=\"fragile x syndrome ilustration\" class=\"wp-image-1887\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T081159.079.png 860w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T081159.079.png?resize=300,197 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T081159.079.png?resize=768,504 768w\" sizes=\"auto, (max-width: 860px) 100vw, 860px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Major_Takeaway\"><\/span>Major Takeaway<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Fragile X Syndrome is an&nbsp;<strong>X-linked dominant disorder<\/strong>. Children (males and females) of a mother with an X-linked dominant disorder have a 50% chance of having the mutant X chromosome. Fathers with X-linked dominant disorders transmit the disease to all their daughters, while the condition is never transmitted to their male children.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>References<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Stone WL, Basit H, Los E. Fragile X Syndrome. [Updated 2020 May 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from:&nbsp;<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459243\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK459243\/<\/a>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>&nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;________________________<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>Want more USMLE\u00ae Step 1 practice questions? Try Osmosis by Elsevier 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-full\"><a href=\"https:\/\/www.osmosis.org\/ultimate-guide\/usmle-step-1\" target=\"_blank\" rel=\"noreferrer noopener\"><img loading=\"lazy\" decoding=\"async\" width=\"700\" height=\"250\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T081246.277.png\" alt=\"Osmosis sign up ad\" class=\"wp-image-1888\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T081246.277.png 700w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/2024-09-11T081246.277.png?resize=300,107 300w\" sizes=\"auto, (max-width: 700px) 100vw, 700px\" \/><\/a><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.osmosis.org\/ultimate-guide\/usmle-step-1\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><br><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.\u00a0<\/sub><\/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. Today&#8217;s case focuses on a 6-year-old adopted boy diagnosed with autism spectrum disorder and Fragile X syndrome. Delve into the discussion with the physician, exploring the family pedigrees that unravel the genetic roots of this young patient&#8217;s [&hellip;]<\/p>\n","protected":false},"author":202,"featured_media":1864,"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":[27,20,1366,1369,44],"tags":[],"class_list":["post-1863","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medicine","category-exam-prep","category-questions","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: Fragile X 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-fragile-x-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: Fragile X 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. Today&#8217;s case focuses on a 6-year-old adopted boy diagnosed with autism spectrum disorder and Fragile X syndrome. 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A 4-year-old boy with increased sensitivity to sunlight and facial skin changes since birth is brought in for evaluation. What's the most likely diagnosis? A 4-year-old boy is brought to the office by his parent because of increased sensitivity to sunlight. 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