title: Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.
abstract: Various rearrangements involve the proximal long arm of chromosome 15, including deletions, duplications, translocations, inversions and supernumerary marker chromosome of an inverted duplication. The large marker 15, that contains the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region, is usually associated with an abnormal phenotype of moderate to severe mental retardation, seizures, poor motor coordination, early-onset central hypotonia, autism and autistic-like behavior, schizophrenia and mild dysmorphic features. We report a ten year-old girl with normal intelligence prior to the onset of seizures, who developed severe intractable epilepsy at the age of seven years. Family history was significant for a mother with recurrent episodes of acute psychosis. The patient's and mother's karyotype revealed 47,XX+m. Array comparative genomic hybridization (A-CGH) identified a gain of 13 BAC clones from 15q11.2 through 15q13.1, which was then confirmed by FISH to be part of the marker chromosome. This duplicated region contains the SNRPN/UBE3A locus. This case demonstrates that a duplication of 15q11-13 can present differently in the same family either as intractable epilepsy or as a psychiatric illness and that intelligence can be preserved. We suggest that CGH microarray should be performed in cases with intractable epilepsy or schizophrenia, with or without mental retardation.
authors.affiliation: Institute of Medical Genetics, Wolfson Medical Center, 58100 Holon, Israel.
authors.forename: Marina
authors.initials: M
authors.lastname: Michelson
authors.forename: Avi
authors.initials: A
authors.lastname: Eden
authors.forename: Chana
authors.initials: C
authors.lastname: Vinkler
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.forename: Uri
authors.initials: U
authors.lastname: Kremer
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
mesh_terms: D000328:Adult; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D018450:Disease Progression; D004827:Epilepsy / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D012559:Schizophrenia / Q000188:drug therapy / Q000235:genetics*; D017211:Treatment Failure; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D000927:Anticonvulsants