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J Med Genet 1999;36:498 doi:10.1136/jmg.36.6.498
  • Letters to the editor

Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil

  1. ANDRÉIA M L VERCESI
  1. Department of Biochemistry, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
  2. Department of General Biology, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
  3. Department of Paediatrics, Universidade Federal de Minas Gerais, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
  4. Departmento de Bioquímica e Imunologia, Instituto de Ciências Biológicas-UFMG, Av Antônio Carlos 6627, 31.270-901 Belo Horizonte, MG, Brazil, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
    1. MARIA RAQUEL S CARVALHO
    1. Department of Biochemistry, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
    2. Department of General Biology, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
    3. Department of Paediatrics, Universidade Federal de Minas Gerais, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
    4. Departmento de Bioquímica e Imunologia, Instituto de Ciências Biológicas-UFMG, Av Antônio Carlos 6627, 31.270-901 Belo Horizonte, MG, Brazil, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
      1. MARCOS J B AGUIAR
      1. Department of Biochemistry, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
      2. Department of General Biology, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
      3. Department of Paediatrics, Universidade Federal de Minas Gerais, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
      4. Departmento de Bioquímica e Imunologia, Instituto de Ciências Biológicas-UFMG, Av Antônio Carlos 6627, 31.270-901 Belo Horizonte, MG, Brazil, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
        1. SÉRGIO D J PENA
        1. Department of Biochemistry, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
        2. Department of General Biology, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
        3. Department of Paediatrics, Universidade Federal de Minas Gerais, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
        4. Departmento de Bioquímica e Imunologia, Instituto de Ciências Biológicas-UFMG, Av Antônio Carlos 6627, 31.270-901 Belo Horizonte, MG, Brazil, and GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil

            Editor—Prader-Willi (PWS) and Angelman syndromes (AS) are caused by paternal or maternal deletions in 15q11-q13 respectively. Although diagnosis of these diseases may occasionally be made by high resolution chromosomal studies, it is best achieved using FISH or parent of origin analysis on Southern blots. To establish the prevalence of PWS and AS in the general population or among mentally retarded subjects, we need easy, rapid, and low cost screening procedures. In the July 1998 issue of the Journal of Medical Genetics, Jacobsen et al 1 described a screening procedure based on loss of heterozygosity at five microsatellite loci studied by multiplex PCR. For those subjects who were homozygous for the five …

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