Clinical Neuroscience

[Pedigree analysis of hungarian rett syndrome girls]

HOLLÓDY Katalin1, BORVENDÉG Katalin2, KOSZTOLÁNYI György3

NOVEMBER 20, 1997

Clinical Neuroscience - 1997;50(11-12)

[Rett syndrome is a neurodevelopmental disorder that has been reported exclusively in females. It was first described by Andreas Rett in 1966. The disorder is characterized by a progressive loss of cognitive and motor skills as well as the development of stereotypic hand movements, occurring after an apparently normal 6 to 18 months of development. The aetiology of the syndrome is still unknown. Since genetic origin can be presumed we examined the potential gene sources of the Hungarian Rett syndrome patients. Genealogical tests were carried out based on 22 Hungarian families with Rett syndrome girls. None of our 23 probands was born to first-cousin couples, but we found an increased number of consanguineous marriages among the ancestors of the patients: in two families first-cousin marriages among the great grandparents on the maternal sides; in one family, one second-cousin marriage on the maternal side. Considering the rate of the consanguineous marriages in Hungary the observed rate is highly increased. On investigating the place of origin of the Rett families we found a predominance in the north east part of Hungary. Our results support the findings of a Swedish analysis.]

AFFILIATIONS

  1. Pécsi Orvostudományi Egyetem, Gyermekklinika
  2. Magyar Rett-szindróma Alapítvány
  3. Pécsi Orvostudományi Egyetem Orvosi Genetikai és Gyermekfejlődéstani Intézet, Pécs

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