Trisomy 12p and epilepsy with myoclonic absences

被引:12
作者
Elia, M
Musumeci, SA
Ferri, R
Cammarata, M
机构
[1] IRCCS, Oasi Inst Res Mental Retardat & Brain Aging, Dept Neurol, I-94018 Troina, EN, Italy
[2] IRCCS, Oasi Inst Res Mental Retardat & Brain Aging, Dept Cytogenet, Troina, Italy
关键词
trisomy; 12p; myoclonic absences; EEG;
D O I
10.1016/S0387-7604(98)00006-0
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report the case of a 6-year-2-month-old female affected by trisomy 12p syndrome. Seizures were typical myoclonic absences from both the clinical and EEG points of view. Our patient and other sporadic reports in the literature seem to support the hypothesis that, at least in some cases, myoclonic absences can be a direct or indirect effect of a chromosomopathy. (C) 1998 Elsevier Science B.V.
引用
收藏
页码:127 / 130
页数:4
相关论文
共 13 条
[1]  
Allen TL, 1996, AM J MED GENET, V63, P250, DOI 10.1002/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO
[2]  
2-K
[3]   PARTIAL TRISOMY 12P DUE TO T(12-21)PAT TRANSLOCATION [J].
BIEDERMAN, B ;
BOWEN, P ;
ROBERTSON, C ;
SCHIFF, D .
HUMAN GENETICS, 1977, 36 (01) :35-41
[4]   TRISOMY 12P SYNDROME - A CHROMOSOMAL DISORDER ASSOCIATED WITH GENERALIZED 3-HZ SPIKE AND WAVE DISCHARGES [J].
GUERRINI, R ;
BUREAU, M ;
MATTEI, MG ;
BATTAGLIA, A ;
GALLAND, MC ;
ROGER, J .
EPILEPSIA, 1990, 31 (05) :557-566
[5]   DISTAL 8P DELETION (8P23.1-]8PTER) - A COMMON DELETION [J].
HUTCHINSON, R ;
WILSON, M ;
VOULLAIRE, L .
JOURNAL OF MEDICAL GENETICS, 1992, 29 (06) :407-411
[6]   TRISOMY 12P SYNDROME - DENOVO OCCURRENCE OF MOSAIC TRISOMY 12P IN A MENTALLY-RETARDED BOY [J].
KONDO, I ;
HAMAGUCHI, H ;
HANEDA, T .
HUMAN GENETICS, 1979, 46 (02) :135-140
[7]  
MCPHERSON JD, 1991, CYTOGENET CELL GENET, V58, P1979
[8]   NEWBORN CHILD WITH KARYOTYPE 47,XX,+DER(12) (12PTER-]12Q12==8Q24-]8QTER),T(8-12) (Q24-Q12) PAT [J].
NIELSEN, J ;
VETNER, M ;
HOLM, V ;
ASKJAER, SA ;
RESKENIELSEN, E .
HUMAN GENETICS, 1977, 35 (03) :357-362
[9]   2 CASES OF TRISOMY 12P DUE TO RCPT(12 - 21)(P11 - P11) INHERITED THROUGH 3 GENERATIONS [J].
PARSLOW, M ;
CHAMBERS, D ;
DRUMMOND, M ;
HUNTER, W .
HUMAN GENETICS, 1979, 47 (03) :253-260
[10]   GENE DOSAGE EFFECT FOR HUMAN TRIOSEPHOSPHATE ISOMERASE AND GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE IN PARTIAL TRISOMY 12P13 AND TRISOMY 18P [J].
SERVILLE, F ;
JUNIEN, C ;
KAPLAN, JC ;
GACHET, M ;
CADOUX, J ;
BROUSTET, A .
HUMAN GENETICS, 1978, 45 (01) :63-69