{"id":1031,"date":"2025-11-06T00:00:00","date_gmt":"2025-11-06T00:00:00","guid":{"rendered":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1669947"},"modified":"2025-11-06T00:00:00","modified_gmt":"2025-11-06T00:00:00","slug":"a-rare-case-of-de-novo-20p12-3-microdeletion-syndrome-in-a-nine-year-old-female-case-report-and-literature-review","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/06\/a-rare-case-of-de-novo-20p12-3-microdeletion-syndrome-in-a-nine-year-old-female-case-report-and-literature-review\/","title":{"rendered":"A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review"},"content":{"rendered":"Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed with 20p12.3 microdeletion syndrome. Genetic testing revealed a deletion spanning 3.5 Mb and containing 31 genes. The patient presented with a range of clinical manifestations, including growth faltering, short stature, controlled seizure disorder, dysmorphic features, and metabolic disturbances. Regarding dysmorphic features, she presented with malar hypoplasia, a high arched palate, microstomia, long philtrum, proptosis, and retrognathia. Metabolic disturbances were primarily manifested as episodes of hypoglycemia with a high anion gap metabolic acidosis. Despite receiving growth hormone therapy as management for short stature, the patient exhibited low levels of insulin-like growth factor 1 (IGF1). This case report adds to the limited body of knowledge regarding 20p12.3 microdeletion syndrome.","protected":false},"excerpt":{"rendered":"<p>Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed &#8230;<\/p>\n","protected":false},"author":217,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,80,12,13],"tags":[71],"class_list":["post-1031","post","type-post","status-publish","format-standard","hentry","category-articulos","category-case-report","category-enfermedades-raras","category-frontiers-in-genetics","tag-frontgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1031","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/217"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1031"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1031\/revisions"}],"predecessor-version":[{"id":1032,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1031\/revisions\/1032"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1031"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1031"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1031"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}