title: Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1).
abstract: We report on a girl with monosomy 1p36.3 and Angelman syndrome due to an unbalanced transmission of a maternal balanced chromosomal translocation. She manifested monosomy 1p36 and Angelman syndrome including generalized hypopigmentation, ataxic movements, intractable seizures with characteristic electroencephalographic (EEG) abnormality compatible with Angelman syndrome, and other minor anomalies, large anterior fontanelle, severe psychomotor retardation, and seizures due to monosomy 1p36. Her karyotype was 45, XX, der(1) t(1;15)(p36.31;q13.1),-15, derived from maternal translocation. Molecular analysis determined a breakpoint of 1p between D1S243 and D1S468, which suggested that most genes contributing to the common phenotype are in the distal region.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan. htorys@pediatr.med.kyushu-u.ac.jp
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Torisu
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Takehisa
authors.initials: T
authors.lastname: Fujiwaki
authors.forename: Mitsutaka
authors.initials: M
authors.lastname: Kadota
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Oshimura
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Shinjiro
authors.initials: S
authors.lastname: Akaboshi
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D017204:Angelman Syndrome / Q000473:pathology*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D009006:Monosomy; D014178:Translocation, Genetic