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.
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.
van Zelderen-Bhola
S L
SL
Department of Clinical Cytogenetics, University Hospital Leiden, The Netherlands.
Breslau-Siderius
E J
EJ
Beverstock
G C
GC
Stolte-Dijkstra
I
I
de Vries
L S
LS
Stoutenbeek
P
P
de Pater
J M
JM
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002886:Chromosomes, Human, Pair 17; D002890:Chromosomes, Human, Pair 20; D005260:Female; D017353:Gene Deletion; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D009778:Occipital Lobe / Q000002:abnormalities / Q000000981:diagnostic imaging; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy; D016216:Ultrasonography, Prenatal