Trisomy 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.

Ventriculomegaly

An increase in size of the ventricular system of the brain.


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(per page)
PMID (PMCID)
22925348
 FEMALE Adult
Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature.
Cambosu F, Capobianco G, Fogu G, Bandiera P, Pirino A, Moro MA, Sanna R, Soro G, Dessole M, Montella A.
J Obstet Gynaecol Res. 2013;39(2):592-7.
Cerebral ventriculomegaly, present in our case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with ventriculomegaly.
22925348
 FEMALE Adult
Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature.
Cambosu F, Capobianco G, Fogu G, Bandiera P, Pirino A, Moro MA, Sanna R, Soro G, Dessole M, Montella A.
J Obstet Gynaecol Res. 2013;39(2):592-7.
Cerebral ventriculomegaly, present in our case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with ventriculomegaly.