{"id":111867,"date":"2024-11-14T13:10:50","date_gmt":"2024-11-14T04:10:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/"},"modified":"2025-08-22T14:59:26","modified_gmt":"2025-08-22T05:59:26","slug":"jacobsen","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en","title":{"rendered":"Jacobsen Syndrome: A Complete Chromosome Deletion Disorder"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>This article offers a comprehensive, evidence-based look at Jacobsen Syndrome. It explains how the chromosomal deletion affects development and health, outlines diagnostic techniques like array CGH and FISH, and explores management strategies involving multidisciplinary care. The piece also discusses prognosis, emphasizing the importance of early intervention and ongoing medical support for better outcomes.\n<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/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.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\" >\u75be\u60a3\u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Overview_of_Jacobsen_Syndrome\" >Overview of Jacobsen Syndrome<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Discovery_and_Prevalence\" >Discovery and Prevalence<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Clinical_Variability\" >Clinical Variability<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Genetic_Cause_and_Diagnosis\" >Genetic Cause and Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Chromosomal_Mechanism\" >Chromosomal Mechanism<\/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.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Diagnostic_Approaches\" >Diagnostic Approaches<\/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.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Symptoms_and_Management\" >Symptoms and Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Craniofacial_Features\" >Craniofacial Features<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Heart_and_Hematological_Complications\" >Heart and Hematological Complications<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Growth_and_Developmental_Challenges\" >Growth and Developmental Challenges<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Immune_and_Sensory_Issues\" >Immune and Sensory Issues<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Neurological_and_Behavioral_Concerns\" >Neurological and Behavioral Concerns<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Treatment_and_Multidisciplinary_Support\" >Treatment and Multidisciplinary Support<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Symptom-Focused_Care\" >Symptom-Focused Care<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Prognosis\" >Prognosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Survival_and_Quality_of_Life\" >Survival and Quality of Life<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#Conclusion\" >Conclusion<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\/#References\" >References<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr11q23.3-q25-hgtIdeo_genome_ea131_238cd0-1024x23.png\" alt=\"chr11q23.3-q25\" class=\"wp-image-88788\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Overview_of_Jacobsen_Syndrome\"><\/span><strong>Overview of Jacobsen Syndrome<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Discovery_and_Prevalence\"><\/span><strong>Discovery and Prevalence<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>First described by Jacobsen in 1973, this syndrome is linked to deletions in the chromosomal region 11q23.3\u2013q25. It occurs in approximately 1 in 50,000 to 100,000 live births, with about 70 percent of cases affecting females. Roughly 85 percent of cases result from spontaneous (de novo) mutations, while the remainder are inherited.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31510744_s.jpg\" alt=\"\u7d46\u5275\u818f\" class=\"wp-image-88803\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Clinical_Variability\"><\/span><strong>Clinical Variability<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The symptoms and severity vary based on the size and location of the deletion. Common hallmarks include prenatal and postnatal growth delays, motor and intellectual developmental delays, and distinctive facial features such as a wide nasal bridge, downturned mouth, and small chin.<\/p>\n\n\n\n<p>A defining feature of Jacobsen Syndrome is Paris-Toussaint bleeding disorder, present in nearly 88.5 percent of cases. This condition, caused by a low platelet count from birth, often leads to increased bleeding risk and, in some cases, immune deficiencies.<\/p>\n\n\n\n<p>Other complications often include congenital heart defects, kidney and urinary tract abnormalities, gastrointestinal and skeletal issues, and sensory problems involving vision or hearing. Neurological involvement and hormonal imbalances are also documented.<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Cause_and_Diagnosis\"><\/span><strong>Genetic Cause and Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Chromosomal_Mechanism\"><\/span><strong>Chromosomal Mechanism<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Jacobsen Syndrome results from deletions on the long arm of chromosome 11, affecting regions tied to the cohesin complex responsible for chromosome alignment during cell division. Most cases involve terminal deletions that span between 7 and 16 megabases. Smaller or intermediate deletions may result in a milder presentation, often referred to as partial Jacobsen Syndrome.<\/p>\n\n\n\n<p>Occasionally, the breakpoint occurs at a fragile site (FRA11B), leading to a mosaic pattern in which some cells carry the deletion while others do not, moderating symptom severity.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnostic_Approaches\"><\/span><strong>Diagnostic Approaches<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Diagnosis begins with recognition of characteristic clinical signs and is confirmed through genetic testing.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Array Comparative Genomic Hybridization (array CGH)<\/strong> detects the size and location of chromosomal deletions.<br><\/li>\n\n\n\n<li><strong>Fluorescence In Situ Hybridization (FISH)<\/strong> is often used for confirmation.<br><\/li>\n\n\n\n<li><strong>Prenatal testing<\/strong> can be performed using DNA from amniotic fluid or chorionic villi.<br><\/li>\n\n\n\n<li><strong>Non-invasive prenatal testing (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)<\/strong>, analyzing fetal DNA in maternal blood, may identify deletions, though its accuracy for Jacobsen Syndrome is not yet fully validated.<br><\/li>\n<\/ul>\n\n\n\n<p>In about 90 percent of cases, the deletion is de novo. Inherited cases typically stem from a parent with a balanced chromosomal translocation or, more rarely, a parent carrying a terminal 11q deletion.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"512\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr11-MdZEZEbIcZZMeCaKdUAAAHMX.png\" alt=\"chr11\" class=\"wp-image-88797\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms_and_Management\"><\/span><strong>Symptoms and Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Craniofacial_Features\"><\/span><strong>Craniofacial Features<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Individuals often display a combination of distinct craniofacial traits, including:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Unusual head shape and widely spaced eyes<br><\/li>\n\n\n\n<li>Ptosis (drooping eyelids) or coloboma (eye tissue defect)<br><\/li>\n\n\n\n<li>Downward-slanting eye openings and epicanthal folds<br><\/li>\n\n\n\n<li>Broad nasal bridge, short nose, V-shaped mouth, and small chin<br><\/li>\n\n\n\n<li>Low-set, backward-rotated ears<br><\/li>\n<\/ul>\n\n\n\n<p>Premature fusion of cranial sutures, known as craniosynostosis, can also occur and may require surgical correction in infancy.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Heart_and_Hematological_Complications\"><\/span><strong>Heart and Hematological Complications<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Bleeding issues are among the most critical health concerns. Approximately 88.5 percent of patients have thrombocytopenia, leading to easy bruising, prolonged bleeding, and elevated risk of internal bleeding.<\/p>\n\n\n\n<p>Congenital heart defects are frequent and often include ventricular septal defects, atrial septal defects, or patent ductus arteriosus. These defects often require surgical intervention early in life.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Growth_and_Developmental_Challenges\"><\/span><strong>Growth and Developmental Challenges<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Growth delays are typical, often resulting in short stature linked to growth hormone deficiencies. Although growth hormone therapy can be considered, it must be approached cautiously because of a possible increased tumor risk in these patients.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Immune_and_Sensory_Issues\"><\/span><strong>Immune and Sensory Issues<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Immune deficiencies, particularly lymphopenia, leave many individuals more vulnerable to infections. Visual and hearing impairments are common, including strabismus, cataracts, or other structural eye issues.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Neurological_and_Behavioral_Concerns\"><\/span><strong>Neurological and Behavioral Concerns<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Most individuals present with intellectual disabilities of varying severity. Some also display traits of <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>, autism spectrum disorders, or emotional and behavioral difficulties.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Treatment_and_Multidisciplinary_Support\"><\/span><strong>Treatment and Multidisciplinary Support<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptom-Focused_Care\"><\/span><strong>Symptom-Focused Care<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>There is no cure for Jacobsen Syndrome. Treatment centers on managing symptoms and preventing complications through a coordinated care approach.<\/p>\n\n\n\n<p>Key strategies include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Surgical interventions for craniofacial defects, craniosynostosis, or congenital heart conditions<br><\/li>\n\n\n\n<li>Physical, occupational, and speech therapies, along with behavioral support programs<br><\/li>\n\n\n\n<li>Ongoing monitoring of heart, kidney, and endocrine functions<br><\/li>\n\n\n\n<li>Preventive measures for immune deficiencies, including immunization and infection management<br><\/li>\n\n\n\n<li>Hormonal therapy for thyroid or other endocrine deficiencies<br><\/li>\n<\/ul>\n\n\n\n<p>Genetic counseling to guide family planning and provide support<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u304a\u3066\u3066\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span><strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Survival_and_Quality_of_Life\"><\/span><strong>Survival and Quality of Life<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The prognosis is highly variable. Severe heart defects, bleeding complications, and immune deficiencies can significantly affect survival, particularly in infancy. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> interventions such as platelet transfusions, antibiotics, and corrective heart surgery can improve outcomes.<\/p>\n\n\n\n<p>Many children who survive the neonatal period reach adulthood, though they often require lifelong medical and developmental support. Intellectual abilities range from mild learning delays to severe cognitive impairment.<\/p>\n\n\n\n<p>The longest documented survival is at least 45 years, showing that with consistent and comprehensive care, long-term survival is possible.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Conclusion\"><\/span><strong>Conclusion<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Jacobsen Syndrome is a complex, rare genetic disorder with a broad clinical spectrum. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> diagnosis, careful monitoring, and integrated multidisciplinary care significantly improve outcomes and quality of life. Support for families, combined with ongoing advances in genetic medicine, continues to shape better approaches to managing this condition.<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31048631_s-1.jpg\" alt=\"\u3053\u3069\u3082\u306e\u8a3a\u65ad\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"References\"><\/span><strong>References<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Mattina, T., Perrotta, C. S., &amp; Grossfeld, P. (2009). Jacobsen syndrome. <em>Orphanet Journal of Rare Diseases, 4<\/em>(1), 9.<br>Jatczak-Gaca, A. (2023). Hematological aberrations in patient with Jacobsen syndrome. <em>Acta Haematologica Polonica, VM\/OJS\/J\/96831<\/em>.<br>Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. <em>Nucleic Acids Research, gkae974<\/em>.<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081This article&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":88827,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-111867","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111867","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111867"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111867\/revisions"}],"predecessor-version":[{"id":111916,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111867\/revisions\/111916"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/88827"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111867"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111867"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111867"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}