Non-distal duplication 10q

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Synonyms: Non-distal trisomy 10q | Non-telomeric trisomy 10q

Non-distal trisomy 10q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10 characterized by mild to moderate developmental delay postnatal growth retardation central hypotonia craniofacial dysmorphism (incl. microcephaly prominent forehead flat thick ear helices deep-set small eyes epicanthus upturned nose bow-shaped mouth highly arched palate micrognathia) ocular anomalies (e.g. iris coloboma retinal dysplasia strabismus) long slender limbs and skeletal and digital anomalies (scoliosis poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect) anal atresia and cryptorchidism.

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 June 2024

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Non-distal duplication 10q?

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