Trisomy 1q

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Trisomy 1q

Synonyms: Duplication 1q

Trisomy 1q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 1 with a highly variable phenotype principally characterized by intellectual disability short stature craniofacial dysmorphism (incl. macro/microcephaly prominent forehead posteriorly rotated low-set ears abnormal palpebral fissures microphthalmia broad flat nasal bridge high-arched palate micro/retrognathia) cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations as well as dystonic tremor and recurrent respiratory tract infections.

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 May 2024

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Trisomy 1q?

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