Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature
Article first published online: 26 AUG 2012
© 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology
Journal of Obstetrics and Gynaecology Research
Volume 39, Issue 2, pages 592–597, February 2013
How to Cite
Cambosu, F., Capobianco, G., Fogu, G., Bandiera, P., Pirino, A., Moro, M. A., Sanna, R., Soro, G., Dessole, M. and Montella, A. (2013), Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature. Journal of Obstetrics and Gynaecology Research, 39: 592–597. doi: 10.1111/j.1447-0756.2012.01986.x
- Issue published online: 28 JAN 2013
- Article first published online: 26 AUG 2012
- Received: April 25 2012.; Accepted: June 16 2012.
- 1q trisomy;
- fluorescence in situ hybridization;
- prenatal diagnosis;
Partial trisomy of the long arm of chromosome 1 is a relatively rare cytogenetic anomaly. Its phenotype has still not been completely defined, because of the cytogenetic heterogeneity of the cases so far described. We report a prenatal case of partial 1q trisomy associated with partial monosomy 4q, secondary to balanced maternal translocation t(1;4). The trisomic segment extended from 1q31.1 to qter and the monosomy 4q was from 4q35.2 to qter. The phenotypic anomalies found by post-mortem and autopsy examinations were compared with those of similar cases reported in the literature. We performed standard cytogenetics and fluorescence in situ hybridization. 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.