Trisomy 12p Syndrome: A Chromosomal Disorder Associated with Generalized 3‐Hz Spike and Wave Discharges
1990; Wiley; Volume: 31; Issue: 5 Linguagem: Inglês
10.1111/j.1528-1157.1990.tb06106.x
ISSN1528-1167
AutoresRenzo Guerrini, Michelle Bureau, Marie‐Geneviève Mattéi, Agatino Battaglia, Marie‐Claude Galland, Joseph Roger,
Tópico(s)Prenatal Screening and Diagnostics
ResumoThree cases (2 boys, 1 girl) of trisomy 12p syndrome are reported. In two, the disorder is caused by a malsegregation of a maternal translocation, the karyotype being 46,XY,der(18),t(12;18)(p11;q23) (case 2) and 46,XX,-10,+ der(10),t(10;12)(p15;p11) (case 3). Case 1 is a de novo case with a regular trisomy 12p in the fibroblasts: 47,XY + (12pter----12 cen. . .?) and a mosaic trisomy 12p in lymphocytes: 46,XY/47,XY, + (12pter----12 cen. . .?). In all cases, the EEG showed 3-Hz generalized spike and wave (SW) discharges. Generalized epilepsy with myoclonic seizures was present in two patients (cases 1 and 2), who may be considered to have a symptomatic generalized epilepsy with a specific etiology. Case 3 has shown only febrile seizures. Any association between the excess of genetic material and the EEG trait "generalized SW" might not be a chance occurrence in this disorder; however, both EEG findings and clinical features (seizure type and frequency) in the 23 cases reported in the literature are too scanty to allow confirmation of such an association.
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