Non-distal deletion 10q

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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