Literature DB >> 3953655

Autism in fragile X females.

R J Hagerman, A E Chudley, J H Knoll, A W Jackson, M Kemper, R Ahmad.   

Abstract

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.

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Year:  1986        PMID： 3953655     DOI： 10.1002/ajmg.1320230129

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  12 in total

1.  Brief report: autistic behaviors among children with fragile X or Rett syndrome: implications for the classification of pervasive developmental disorder.

Authors:  M M Mazzocco; M Pulsifer; A Fiumara; M Cocuzza; F Nigro; G Incorpora; R Barone
Journal:  J Autism Dev Disord       Date:  1998-08

Review 2.  Fragile X syndrome. Molecular and clinical insights and treatment issues.

Authors:  R J Hagerman
Journal:  West J Med       Date:  1997-02

3.  Females with autism and the fragile X.

Authors:  P Bolton; M Rutter; L Butler; D Summers
Journal:  J Autism Dev Disord       Date:  1989-09

4.  Fragile X in female autistic twins.

Authors:  A Le Couteur; M Rutter
Journal:  J Autism Dev Disord       Date:  1988-09

5.  Autistic behaviors among girls with fragile X syndrome.

Authors:  M M Mazzocco; W R Kates; T L Baumgardner; L S Freund; A L Reiss
Journal:  J Autism Dev Disord       Date:  1997-08

6.  Clinico-neurological investigations in the fra(X) form of mental retardation.

Authors:  P Vieregge; U Froster-Iskenius
Journal:  J Neurol       Date:  1989-02       Impact factor: 4.849

7.  Social cognition skills among females with fragile X.

Authors:  M M Mazzocco; B F Pennington; R J Hagerman
Journal:  J Autism Dev Disord       Date:  1994-08

8.  Neuroanatomy in fragile X females: the posterior fossa.

Authors:  A L Reiss; L Freund; J E Tseng; P K Joshi
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

9.  Molecular and cytogenetic analyses of autism in Taiwan.

Authors:  S Y Li; Y C Chen; T J Lai; C Y Hsu; Y C Wang
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

10.  A male with cooccurrence of down syndrome and fragile x syndrome.

Authors:  Tovi Anderson; Allison Buterbaugh; Kaitlin Love; Jeannie Visootsak
Journal:  Case Rep Genet       Date:  2013-09-12
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