Microtriplication 11q24.1

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Synonyms: Tetrasomy 11q24.1

Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy resulting from a partial triplication of the long arm of chromosome 11 characterized by intellectual disability (with severe verbal impairment) short stature with small extremities keratoconus and distinctive facial features (round course face upward slanting palpebral fissures mild synophris large nose with thick ala nasi and triangular tip large mouth with broad lips short and smooth philtrum large protruded chin ears with adherent lobules). Additionally patients are overweight and present hypercholesterolemia.

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 http://www.orphadata.org. Data version July 2024

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Microtriplication 11q24.1?

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