Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for distal monosomy 12p.
3 publications have been identified in PubMed for distal monosomy 12p. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).
Lu J (2025). [PMID: 40008001](https://pubmed.ncbi.nlm.nih.gov/40008001/). *Frontiers in oncology*. [Basic Science / Preclinical]
Kendrick TS (2025). [PMID: 39774131](https://pubmed.ncbi.nlm.nih.gov/39774131/). *Annals of laboratory medicine*. [Review / Meta-Analysis]
Nguyen MP (2024). [PMID: 38957162](https://pubmed.ncbi.nlm.nih.gov/38957162/). *Neuro-oncology advances*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:16 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center