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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show 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)dnBoth unrelated patients were 10 years old, presenting with severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia, and behavioural disabilities.Aberration: Interstitial deletionChromosomal 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 deletionChromosomal Aneuploidy: 2q-
- 02q231 - Chromosomal Variation in Man02q231 - Chromosomal Variation in Man
- Homo sapiens splicing factor 3a subunit 1 (SF3A1), mRNAHomo sapiens splicing factor 3a subunit 1 (SF3A1), mRNAgi|1519244116|ref|NM_005877.6|Nucleotide
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