Details

Autor(en) / Beteiligte

• VAN ZELDEREN-BHOLA, S. L.
• BRESLAU-SIDERIUS, E. J.
• BEVERSTOCK, G. C.
• STOLTE-DIJKSTRA, I.
• DE VRIES, L. S.
• STOUTENBEEK, Ph
• DE PATER, J. M.

Titel

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

Ist Teil von

• Prenatal diagnosis, 1997-02, Vol.17 (2), p.173-179

Ort / Verlag

Chichester, UK: John Wiley & Sons, Ltd

Erscheinungsjahr

1997

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• 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.