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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Trisomy 1q?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.