Fragile X mutation and FG syndrome-like phenotype

Piussan, C; Mathieu, M; Berquin, P

doi:10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.3.CO;2-X

Title: Fragile X mutation and FG syndrome-like phenotype

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Abstract

We present data on 4 mentally retarded brothers, 2 of whom were dizygotic twins with congenital hypotonia, constipation, head size disproportionately large for length or height, and a combination of minor anomalies suggestive of FG syndrome. These brothers have a mentally retarded full sister with similar minor anomalies and an older half-brother with the Martin-Bell syndrome. The mother is mentally retarded; 4 of 7 individuals are positive for fragile X, but all have a CGG expansion ranging from 0.2-2 to 4 kb. Although the phenotype is not completely typical of the FG syndrome and the coincidence of the FMR1 mutation and segregation of the MCA/MR phenotype are highly unlikely, the FMR1 mutation may affect morphogenesis more extensively and differently than the Martin-Bell syndrome does to effect an FG syndrome-like phenotype in certain families. This phenotype does not appear to be a contiguous gene syndrome, but an effect of the FMR1 mutation on an adjacent gene must be considered. 18 refs., 4 figs.

Authors:

Piussan, C; Mathieu, M; Berquin, P ^[1]

CHU Nord, Amiens (France); and others

Publication Date:: Fri Aug 09 00:00:00 EDT 1996

OSTI Identifier:: 478896

Resource Type:: Journal Article

Journal Name:: American Journal of Medical Genetics

Additional Journal Information:: Journal Volume: 64; Journal Issue: 2; Other Information: PBD: 9 Aug 1996

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; MENTAL DISORDERS; GENETICS; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; CONGENITAL MALFORMATIONS; GENES; GENE MUTATIONS; GENETIC MAPPING; HUMAN X CHROMOSOME; NUCLEOTIDES; RECESSIVE MUTATIONS; PROBES

Citation Formats


                    Piussan, C, Mathieu, M, and Berquin, P. Fragile X mutation and FG syndrome-like phenotype.  United States: N. p., 1996. 
        Web.  doi:10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.3.CO;2-X.

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                    Piussan, C, Mathieu, M, & Berquin, P. Fragile X mutation and FG syndrome-like phenotype.  United States.  https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.3.CO;2-X

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                    Piussan, C, Mathieu, M, and Berquin, P. 1996.  
        "Fragile X mutation and FG syndrome-like phenotype".  United States.  https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.3.CO;2-X.

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@article{osti_478896,

  title        = {Fragile X mutation and FG syndrome-like phenotype},

  author       = {Piussan, C and Mathieu, M and Berquin, P},

  abstractNote = {We present data on 4 mentally retarded brothers, 2 of whom were dizygotic twins with congenital hypotonia, constipation, head size disproportionately large for length or height, and a combination of minor anomalies suggestive of FG syndrome. These brothers have a mentally retarded full sister with similar minor anomalies and an older half-brother with the Martin-Bell syndrome. The mother is mentally retarded; 4 of 7 individuals are positive for fragile X, but all have a CGG expansion ranging from 0.2-2 to 4 kb. Although the phenotype is not completely typical of the FG syndrome and the coincidence of the FMR1 mutation and segregation of the MCA/MR phenotype are highly unlikely, the FMR1 mutation may affect morphogenesis more extensively and differently than the Martin-Bell syndrome does to effect an FG syndrome-like phenotype in certain families. This phenotype does not appear to be a contiguous gene syndrome, but an effect of the FMR1 mutation on an adjacent gene must be considered. 18 refs., 4 figs.},

  doi          = {10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.3.CO;2-X},

  url          = {https://www.osti.gov/biblio/478896},
  journal      = {American Journal of Medical Genetics},
number       = 2,

  volume       = 64,

  place        = {United States},

  year         = {Fri Aug 09 00:00:00 EDT 1996},

  month        = {Fri Aug 09 00:00:00 EDT 1996}

}

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https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.3.CO;2-X

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