Literature DB >> 8050626

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

S Bundey1, C Hardy, S Vickers, M W Kilpatrick, J A Corbett.   

Abstract

Various developmental abnormalities can give rise to the clinical syndrome of autism, and some are due to chromosomal anomalies. One syndrome has been identified in which behavioural disorder is associated with the clinical features of epilepsy and ataxia, and with the chromosomal anomaly of an extra marker chromosome containing a duplication of 15q11-13. The authors report a boy with autism, epilepsy, ataxia and an interstitial duplication of 15q, in whom molecular analysis reveals duplication of the GABRA5 and GABRB3 genes on the maternally derived chromosome.

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 8050626     DOI： 10.1111/j.1469-8749.1994.tb11916.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


  34 in total

Review 1.  Genomic copy number variation in disorders of cognitive development.

Authors:  Eric M Morrow
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2010-11       Impact factor: 8.829

2.  Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling.

Authors:  Armando Bertone; Julie Hanck; Cary Kogan; Avi Chaudhuri; Kim Cornish
Journal:  J Autism Dev Disord       Date:  2010-12

3.  Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Authors:  D T Miller; Y Shen; L A Weiss; J Korn; I Anselm; C Bridgemohan; G F Cox; H Dickinson; J Gentile; D J Harris; V Hegde; R Hundley; O Khwaja; S Kothare; C Luedke; R Nasir; A Poduri; K Prasad; P Raffalli; A Reinhard; S E Smith; M M Sobeih; J S Soul; J Stoler; M Takeoka; W-H Tan; J Thakuria; R Wolff; R Yusupov; J F Gusella; M J Daly; B-L Wu
Journal:  J Med Genet       Date:  2008-09-19       Impact factor: 6.318

4.  Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

Authors:  F L Long; D P Duckett; L J Billam; D K Williams; J A Crolla
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

Review 5.  Molecular genetic investigations of autism.

Authors:  E Maestrini; A J Marlow; D E Weeks; A P Monaco
Journal:  J Autism Dev Disord       Date:  1998-10

Review 6.  Chromosomal disorders and autism.

Authors:  C Gillberg
Journal:  J Autism Dev Disord       Date:  1998-10

7.  Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.

Authors:  Sumito Dateki; Masayo Kagami; Keiko Matsubara; Kei Izumi; Satoshi Watanabe; Akiko Nakatomi; Tatsuro Kondoh; Maki Fukami; Hiroyuki Moriuchi
Journal:  J Hum Genet       Date:  2017-06-08       Impact factor: 3.172

8.  Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Authors:  D Q Ma; P L Whitehead; M M Menold; E R Martin; A E Ashley-Koch; H Mei; M D Ritchie; G R Delong; R K Abramson; H H Wright; M L Cuccaro; J P Hussman; J R Gilbert; M A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2005-07-15       Impact factor: 11.025

9.  Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.

Authors:  Rujuta B Wilson; David Elashoff; Arnaud Gouelle; Beth A Smith; Andrew M Wilson; Abigail Dickinson; Tabitha Safari; Carly Hyde; Shafali S Jeste
Journal:  Autism Res       Date:  2020-04-13       Impact factor: 5.216

10.  Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

Authors:  Simon G Gregory; Jessica J Connelly; Aaron J Towers; Jessica Johnson; Dhani Biscocho; Christina A Markunas; Carla Lintas; Ruth K Abramson; Harry H Wright; Peter Ellis; Cordelia F Langford; Gordon Worley; G Robert Delong; Susan K Murphy; Michael L Cuccaro; Antonello Persico; Margaret A Pericak-Vance
Journal:  BMC Med       Date:  2009-10-22       Impact factor: 8.775
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.