| Autor: |
van Zelderen-Bhola SL; Department of Clinical Cytogenetics, University Hospital Leiden, The Netherlands., Breslau-Siderius EJ, Beverstock GC, Stolte-Dijkstra I, de Vries LS, Stoutenbeek P, de Pater JM |
| Jazyk: |
angličtina |
| Zdroj: |
Prenatal diagnosis [Prenat Diagn] 1997 Feb; Vol. 17 (2), pp. 173-9. |
| DOI: |
10.1002/(sici)1097-0223(199702)17:2<173::aid-pd30>3.0.co;2-v |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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