Document Detail

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.
MedLine Citation:
PMID:  9061768     Owner:  NLM     Status:  MEDLINE    
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.
S L van Zelderen-Bhola; E J Breslau-Siderius; G C Beverstock; I Stolte-Dijkstra; L S de Vries; P Stoutenbeek; J M de Pater
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  17     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1997 Feb 
Date Detail:
Created Date:  1997-05-15     Completed Date:  1997-05-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  173-9     Citation Subset:  IM    
Department of Clinical Cytogenetics, University Hospital Leiden, The Netherlands.
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MeSH Terms
Abnormalities, Multiple / genetics*,  ultrasonography*
Brain / abnormalities
Chromosomes, Human, Pair 17*
Chromosomes, Human, Pair 20*
Gene Deletion
Gestational Age
In Situ Hybridization, Fluorescence
Infant, Newborn
Kidney / abnormalities,  ultrasonography
Occipital Lobe / abnormalities,  ultrasonography
Translocation, Genetic*
Ultrasonography, Prenatal*

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