Non-distal deletion 10q
Synonyms: Non-distal monosomy 10q | Non-telomeric monosomy 10q
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10 with a highly variable phenotype principally characterized by developmental delays (usually of language and speech) variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes such as Cowden syndrome Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Non-distal deletion 10q?
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