| Institution: | 1. Department of Clinical and Cytogenetics, University Hospital, Maastricht, The Netherlands;2. Department of Pediatrics, University Hospital, Maastricht, The Netherlands;3. Echoscopist, Private Practice, Brunssum, The Netherlands;4. Department of Gynaecology and Obstetrics, University Hospital, Maastricht, The Netherlands;5. Department of Clinical and Cytogenetics, University Hospital, Maastricht, The Netherlands
Institute for Growth and Development (GROW), University of Maastricht, The Netherlands;6. Department of Radiology, University Hospital, Maastricht, The Netherlands;7. Department of Pediatrics, Erasmus Medical Center/Sophia Children's Hospital, Rotterdam, The Netherlands;8. Department of Pediatric Urology, Erasmus Medical Center/Sophia Children's Hospital, Rotterdam, The Netherlands;9. Department of Pathology/Laboratory, Patho-Oncology, Erasmus MC-University Medical Center, Rotterdam, The Netherlands |
| Abstract: | Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas in counselling. This is illustrated by this case report of a 35-year-old woman, who presented at the end of the second trimester of her first pregnancy. Sonographic examination indicated an abnormal external genital in a male fetus. A differential diagnosis of hypospadia was made. During follow-up, an amniocentesis was performed, and this showed a 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype as the cause of the sonographic findings. Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed. Copyright © 2005 John Wiley & Sons, Ltd. |
