TY - JOUR
T1 - Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q
AU - Iannetti, P.
AU - Spalice, A.
AU - Mingarelli, R.
AU - Raucci, U.
AU - Novelli, A.
AU - Dallapiccola, B.
PY - 1996
Y1 - 1996
N2 - A large maternally inherited duplication of 14q and deletion of proximal 15q was observed in a child with myoclonic epilepsy, mental retardation and neuroblast migration disorders (NMDs) detected by MRI. Genetic syndromes associated with NMDs have previously been described. In additional our observations support the connection between major chromosomal imbalances, developmental brain disorders and epilepsy. Thus, in patients with these combinations of symptoms, careful chromosome investigations are recommended.
AB - A large maternally inherited duplication of 14q and deletion of proximal 15q was observed in a child with myoclonic epilepsy, mental retardation and neuroblast migration disorders (NMDs) detected by MRI. Genetic syndromes associated with NMDs have previously been described. In additional our observations support the connection between major chromosomal imbalances, developmental brain disorders and epilepsy. Thus, in patients with these combinations of symptoms, careful chromosome investigations are recommended.
KW - Chromosome anomalies
KW - Epilepsy
KW - Neuroblast migration disorders
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M3 - Article
C2 - 9297440
AN - SCOPUS:0029930613
VL - 39
SP - 26
EP - 30
JO - Annales de Genetique
JF - Annales de Genetique
SN - 0003-3995
IS - 1
ER -