{"id":1115,"date":"2025-10-04T23:00:00","date_gmt":"2025-10-04T23:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=792aeb86dc2ecd3afbd3c03ba4af4275"},"modified":"2025-10-04T23:00:00","modified_gmt":"2025-10-04T23:00:00","slug":"clinical-utility-of-multitissue-genomic-arrays-in-diagnosing-pigmentary-mosaicism-associated-with-neurodevelopmental-delay","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/04\/clinical-utility-of-multitissue-genomic-arrays-in-diagnosing-pigmentary-mosaicism-associated-with-neurodevelopmental-delay\/","title":{"rendered":"Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay"},"content":{"rendered":"Genomic mosaicism is underdiagnosed owing to its variable tissue distribution and the limitations of single-tissue testing. Cytogenomic techniques applied across multiple tissues can uncover clinically actionable variants and clarify genotype-phenotype relationships. DNA from 21 patients (14 females and 7 males) with pigmentary mosaicism and global developmental delay was analyzed. Each patient underwent G-band karyotyping and array (Infinium CytoSNP-850K) on peripheral blood, skin fibroblasts, and buccal mucosa samples.","protected":false},"excerpt":{"rendered":"<p>Genomic mosaicism is underdiagnosed owing to its variable tissue distribution and the limitations of single-tissue testing. Cytogenomic techniques applied across multiple tissues can uncover clinically actionable variants and clarify genotype-phenotype&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,54],"tags":[55],"class_list":["post-1115","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-journal-of-molecular-diagnostics","tag-jmoldiagn"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1115","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"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1115"}],"version-history":[{"count":25,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1115\/revisions"}],"predecessor-version":[{"id":1116,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1115\/revisions\/1116"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1115"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1115"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1115"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}