Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13.
Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degrees of mental retardation, and epilepsy. The authors report the molecular analysis, neurophysiologic, and clinical evaluation of a 12-year-old boy with atypical autism and epilepsy due to a maternally derived 15q11-q13 duplication. Their findings suggest that this chromosomal region harbors genes for autism and possibly for partial epilepsy that may act in a dose-dependent manner.
Gurrieri
F
F
Institute of Medical Genetics, Catholic University School of Medicine, Associazione Anni Verdi, Rome, Italy. fgurrieri@rm.unicatt.it
Battaglia
A
A
Torrisi
L
L
Tancredi
R
R
Cavallaro
C
C
Sangiorgi
E
E
Neri
G
G
D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008297:Male; D009035:Mothers; D010375:Pedigree