" /> 10q24qter duplication - CISMeF





Preferred Label : 10q24qter duplication;

ICD-11 definition : Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (flat round face with full cheeks and a large prominent forehead, highly arched eyebrows, short and narrow palpebral fissures (blepharophimosis), widely spaced eyes with telecanthus, a short nose, a bow-shaped mouth with a prominent upper lip, and a small mandible), hypotonia, and developmental and psychomotor delay.;

ICD-11 synonym : Distal 11q duplication syndrome;

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Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (flat round face with full cheeks and a large prominent forehead, highly arched eyebrows, short and narrow palpebral fissures (blepharophimosis), widely spaced eyes with telecanthus, a short nose, a bow-shaped mouth with a prominent upper lip, and a small mandible), hypotonia, and developmental and psychomotor delay.

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28/07/2025


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