02q231

2q23.1

Publication Details

  • Jaillard S, Dubourg C, Gerard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet A-C, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E.: 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? J. Med. Genet. 46: 847-855, 2009. [PMC free article: PMC3236717] [PubMed: 18812405]
    46,XY,del(2)(q22.3->q23.3)dn
    Both unrelated patients were 10 years old, presenting with severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia, and behavioural disabilities.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Angelman-like

  • van Bon B W M, Koolen D A, Brueton L, McMullan D, Lichtenbelt K D, Ades L C, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Bernardina B D, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer A P, Veltman J A, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner H G, Zuffardi O, de Vries B B A.: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Europ. J. Hum. Genet. 18: 163-170., 2010. [PMC free article: PMC2987180] [PubMed: 19809484]
    Data on 11 patients were presented/reviewed.
    It was concluded that the phenotype is variable.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-