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.
Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation.
Zuffardi O, Tiepolo L, Scappaticci S, Francesconi D, Bianchi C, di Natale D. Ann Genet. 1977;20(3):191-94.
A girl with psychomotor retardation and minor physical abnormalities, had an unbalanced X/1 translocation resulting in a partial trisomy 1q and partial monosomy for Xp.
