Francesca Malvestiti1* , Simona De Toffol1, Sara Chinetti1, Beatrice Grimi1, Giancarlo Favero2, Alessandro Borsatti3, Federico Maggi1, Giuseppe Simoni1 and Francesca Romana Grati1
1 Units of Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays, S.p.A., Busto Arsizio, Varese, Italy
2 Division of obstetrics and gynaecology, Merano Hospital, Bolzano, Italy
3 PerkinElmer LAS, Wallac, Turku, Finland
Prenat Diagn. 2010 Mar;30(3):280-3
The deletions of the proximal region of chromosome 4q are apparently rare. We presented the first prenatal case with an interstitial deletion of 4q27q31.23 region, characterized by 1Mb resolution BAC array comparative genome hybridization. The deletion arose from the meiotic segregation of a maternal balanced complex chromosome rearrangement involving either an insertional and a reciprocal translocation among the chromosomes 1, 4 and 5. The ultrasound examination at 15+6 w.g. revealed the presence of multiple fetal anomalies such as ventricular septal defect, truncus arteriosus, cystic hygroma, omphalocele, hypoechogenic bowel. We compared the present case with those reported in literature with a 4q interstitial deletion overlapping at least in part the q27-q31.23 region.