A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation

The potential of a new fluorescent in situ hybridization technique is: disc ussed, which uses a complete set of telomeric probes to reveal cryptic chro mosome rearrangements that remain undetected by standard cytogenetic analys is. We report the obstetric history of a patient who had a termination of p regnancy at 20 weeks for a fetus with multiple congenital anomalies but a n ormal male karyotype using conventional G-banding analysis on a mid-trimest er placental biopsy. In a subsequent pregnancy, a diaphragmatic hernia and intra-uterine growth restriction were detected at 34 weeks' gestation and a fetal blood sample showed a normal female karotype. However, her child was born with dysmorphic features and additional severe abnormalities includin g microcephaly, anophthalmos and left fixed talipes. The child has shown ma rked developmental delay. In view of a strong family history of congenital abnormalities and recurrent miscarriage suggestive of a familial translocat ion, a fluorescent in situ hybridization technique using specific telomeric probes was performed on blood from the affected child and her parents. An unbalanced subtelomeric translocation was detected involving the long arms of chromosomes 2 and 7 in the child and a balanced translocation was detect ed in her father. Accurate genetic counselling and the opportunity for earl y prenatal diagnosis can now be offered to this family. Copyright (C) 1999 John Wiley & Sons, Ltd.