{"id":2047,"date":"2025-02-04T18:37:51","date_gmt":"2025-02-04T18:37:51","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2047"},"modified":"2026-02-22T01:17:23","modified_gmt":"2026-02-22T01:17:23","slug":"neurodevelopmental-delay-musculoskeletal-disorders-and-dysmorphia-associated-with-a-novel-pathogenic-interstitial-deletion-of-chromosome-10q21-1q21-3","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/02\/04\/neurodevelopmental-delay-musculoskeletal-disorders-and-dysmorphia-associated-with-a-novel-pathogenic-interstitial-deletion-of-chromosome-10q21-1q21-3\/","title":{"rendered":"Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3 (Contributed by Dr Dibyendu Dutta)"},"content":{"rendered":"

Most reported chromosome 10q deletions occur in the distal region. This case series describes three unrelated patients with a rare 10q21.1q21.3 deletion linked to neurodevelopmental delays, musculoskeletal disorders, and distinct facial features. Key genes in the deleted region, ANK3, BICC1, and TFAM, are critical for brain development, kidney function, and skeletal formation, respectively. We summarized genotype-phenotype correlations, emphasizing early diagnosis and management of similar cases. These findings underscore the value of affordable genetic testing for identifying and addressing such chromosomal defects. (https:\/\/jmg.bmj.com\/content\/early\/2025\/02\/04\/jmg-2024-110367<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Most reported chromosome 10q deletions occur in the distal region. This case series describes three unrelated patients with a rare 10q21.1q21.3 deletion linked to neurodevelopmental delays, musculoskeletal disorders, and distinct facial features. Key genes in the deleted region, ANK3, BICC1, and TFAM, are critical for brain development, kidney function, and skeletal formation, respectively. We summarized […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2047","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nNeurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3 (Contributed by Dr Dibyendu Dutta) - JMG Contact 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:\/\/blogs.bmj.com\/jmg\/2025\/02\/04\/neurodevelopmental-delay-musculoskeletal-disorders-and-dysmorphia-associated-with-a-novel-pathogenic-interstitial-deletion-of-chromosome-10q21-1q21-3\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3 (Contributed by Dr Dibyendu Dutta) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Most reported chromosome 10q deletions occur in the distal region. This case series describes three unrelated patients with a rare 10q21.1q21.3 deletion linked to neurodevelopmental delays, musculoskeletal disorders, and distinct facial features. Key genes in the deleted region, ANK3, BICC1, and TFAM, are critical for brain development, kidney function, and skeletal formation, respectively. 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