[Familial Miller-Dieker syndrome and (15;17) chromosome translocation].
Two siblings with familial lissencephaly presented with the clinical and neuropathological features of the Miller-Dieker syndrome. High resolution caryotype demonstrated a 46,XX,-17+der(17)t(15;17)pat translocation with partial deletion of the short arm of chromosome 17 in one patient and a balanced 46,XY,t(15;17)(q2600;p1300) translocation in the father. Review of the literature uncovered 14 additional patients with Miller-Dieker syndrome and partial deletion of the short arm of chromosome 17. A cytogenetic study should be done in all cases of lissencephaly for genetic counselling.
Goutières
F
F
Unité de Neurologie Infantile, Hôpital des Enfants-Malades, Paris.
Aicardi
J
J
Rethore
M O
MO
Prieur
M
M
Lejeune
J
J
D001921:Brain / Q000002:abnormalities*; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic
Syndrome de Miller-Dieker familial et translocation chromosomique (15;17).