PMID- 9061768
OWN - NLM
STAT- MEDLINE
DCOM- 19970515
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 17
IP  - 2
DP  - 1997 Feb
TI  - 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.
PG  - 173-9
AB  - 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.
FAU - van Zelderen-Bhola, S L
AU  - van Zelderen-Bhola SL
AD  - Department of Clinical Cytogenetics, University Hospital Leiden, The Netherlands.
FAU - Breslau-Siderius, E J
AU  - Breslau-Siderius EJ
FAU - Beverstock, G C
AU  - Beverstock GC
FAU - Stolte-Dijkstra, I
AU  - Stolte-Dijkstra I
FAU - de Vries, L S
AU  - de Vries LS
FAU - Stoutenbeek, P
AU  - Stoutenbeek P
FAU - de Pater, J M
AU  - de Pater JM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/*diagnostic imaging/*genetics
MH  - Brain/abnormalities
MH  - *Chromosomes, Human, Pair 17
MH  - *Chromosomes, Human, Pair 20
MH  - Female
MH  - Gene Deletion
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Kidney/abnormalities/diagnostic imaging
MH  - Male
MH  - Occipital Lobe/abnormalities/diagnostic imaging
MH  - Pedigree
MH  - Pregnancy
MH  - Syndrome
MH  - *Translocation, Genetic
MH  - Trisomy
MH  - *Ultrasonography, Prenatal
EDAT- 1997/02/01 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/02/01 00:00
PHST- 1997/02/01 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/02/01 00:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199702)17:2<173::AID-PD30>3.0.CO;2-V [pii]
AID - 10.1002/(sici)1097-0223(199702)17:2<173::aid-pd30>3.0.co;2-v [doi]
PST - ppublish
SO  - Prenat Diagn. 1997 Feb;17(2):173-9. doi: 
      10.1002/(sici)1097-0223(199702)17:2<173::aid-pd30>3.0.co;2-v.