Distal duplication 2q

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Distal duplication 2q

Synonyms: Distal trisomy 2q | Telomeric duplication 2q | Trisomy 2qter

Distal trisomy 2q is a rare chromosomal anomaly resulting from the partial duplication of the long arm of chromosome 2 characterized by moderate psychomotor delay mild intellectual disability facial dysmorphism (high hairline prominent forehead hypertelorism upslanting palpebral fissures large low-set and/or posteriorly rotated ears depressed/broad nasal bridge prominent nasal tip thin upper lip vermillion) clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias cryptorchidism shawl scrotum) and short stature may be observed.

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 October 2023.

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Distal duplication 2q?

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