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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions |
umls-concept:C0040715,
umls-concept:C0162789,
umls-concept:C0241888,
umls-concept:C0265219,
umls-concept:C0442726,
umls-concept:C0443281,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0678226,
umls-concept:C0678804,
umls-concept:C1261322,
umls-concept:C1424876,
umls-concept:C1511790,
umls-concept:C1522702,
umls-concept:C1533148
|
| pubmed:issue |
2
|
| pubmed:dateCreated |
1997-5-15
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0197-3851
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
17
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
173-9
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9061768-Abnormalities, Multiple,
pubmed-meshheading:9061768-Brain,
pubmed-meshheading:9061768-Chromosomes, Human, Pair 17,
pubmed-meshheading:9061768-Chromosomes, Human, Pair 20,
pubmed-meshheading:9061768-Female,
pubmed-meshheading:9061768-Gene Deletion,
pubmed-meshheading:9061768-Gestational Age,
pubmed-meshheading:9061768-Humans,
pubmed-meshheading:9061768-In Situ Hybridization, Fluorescence,
pubmed-meshheading:9061768-Infant, Newborn,
pubmed-meshheading:9061768-Kidney,
pubmed-meshheading:9061768-Male,
pubmed-meshheading:9061768-Occipital Lobe,
pubmed-meshheading:9061768-Pedigree,
pubmed-meshheading:9061768-Pregnancy,
pubmed-meshheading:9061768-Syndrome,
pubmed-meshheading:9061768-Translocation, Genetic,
pubmed-meshheading:9061768-Trisomy,
pubmed-meshheading:9061768-Ultrasonography, Prenatal
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
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.
|
| pubmed:affiliation |
Department of Clinical Cytogenetics, University Hospital Leiden, The Netherlands.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|