PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION
✍ Scribed by S. L. VAN ZELDEREN-BHOLA; E. J. BRESLAU-SIDERIUS; G. C. BEVERSTOCK; I. STOLTE-DIJKSTRA; L. S. DE VRIES; Ph. STOUTENBEEK; J. M. DE PATER
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 415 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in situ hybridization (FISH), but not by conventional cytogenetic analysis. FISH using a cocktail of cosmids (c197-2, c197-4, c197-9) from the Miller-Dieker critical region showed a deletion of 17p13.3 in one homologue of chromosome 17. Additional FISH studies revealed a subtle 17p;20q translocation in the father, his sister, and the paternal grandmother. Hence, our patient is a carrier of an unbalanced 17;20 translocation resulting in a partial deletion of 17p and a partial trisomy 20q. Whenever kidney anomalies and dilated occipital horns are observed together with polyhydramnios during prenatal ultrasound examination, the possibility of Miller-Dieker syndrome should be suspected. In such cases, prenatal and/or postnatal chromosome studies should also include FISH analysis with the appropriate probes. 1997 by John Wiley & Sons, Ltd.