Martin‐Bell syndrome in Greece, with report of another 47,XXY fragile X patient

Mavrou, Ariadni; Syrrou, Maria; Tsenghi, Christine; Agelakis, Manthos; Youroukos, Sotiris; Metaxotou, Catherine; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320310403

Cited by 14 publications

(8 citation statements)

References 10 publications

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“…The frequency that we found, 1.15% of the total individuals tested and 1.94% of the boys tested, is lower than that reported in a previous cytogenetic study of Greek patients (3.5%) [Mavrou et al, 1988]. The frequency that we found, 1.15% of the total individuals tested and 1.94% of the boys tested, is lower than that reported in a previous cytogenetic study of Greek patients (3.5%) [Mavrou et al, 1988].…”

Section: Discussioncontrasting

confidence: 92%

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

et al. 1998

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Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. Here we report a pilot screening survey by means of cytogenetic and molecular methods of 433 unrelated retarded individuals and their parents of Hellenic origin coming from various parts of Greece and Cyprus. The purpose of the study was to estimate the frequency of FRAXA mutation in individuals with nonspecific mental retardation without family history and phenotypic stigmata in the Hellenic population. Five FRAXA-positive children (1.15%) were identified, of whom four were found to carry a full mutation and one a premutation. Furthermore we present preliminary data on a screening of FRAXE mutation frequency. We screened 257 male patients with nonspecific mental retardation, finding none positive for FRAXE mutation.

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Section: Discussioncontrasting

confidence: 92%

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

et al. 1998

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“…The frequency that we found, 1.15% of the total individuals tested and 1.94% of the boys tested, is lower than that reported in a previous cytogenetic study of Greek patients (3.5%) [Mavrou et al, 1988]. We believe that the discordance is due to the selection of the sample and the sensitivity and specificity of the molecular analysis.…”

Section: Discussioncontrasting

confidence: 85%

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

et al. 1998

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Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. Here we report a pilot screening survey by means of cytogenetic and molecular methods of 433 unrelated retarded individuals and their parents of Hellenic origin coming from various parts of Greece and Cyprus. The purpose of the study was to estimate the frequency of FRAXA mutation in individuals with nonspecific mental retardation without family history and phenotypic stigmata in the Hellenic population. Five FRAXA‐positive children (1.15%) were identified, of whom four were found to carry a full mutation and one a premutation. Furthermore we present preliminary data on a screening of FRAXE mutation frequency. We screened 257 male patients with nonspecific mental retardation, finding none positive for FRAXE mutation. Genet. Epidemiol. 15:103–109,1998. © 1998 Wiley‐Liss, Inc.

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“…Thus, this is a case of Klinefelter syndrome in which nondisjunction occurred at the first stage of maternal meiosis. Several authors have reported that fra(X) chromosome can be found in some patients with chromosome abnormalities, like trisomy 21 or Klinefelter syndrome [Dunn et al, 1983;F'rosterIskenius et al, 1982;F'ryns et al, 1984;Mavrou et al, without apparent recombination: l.A.24fral.2.4.2. The study of their offspring and the results of the 6 probes studied, respectively, from centromere to telomere, are shown in Figure 1.…”

Section: Discussionmentioning

confidence: 98%

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter Syndrome

et al. 1991

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We report on a large family (4 generations), with 77 studied individuals, 9 mentally retarded males, and one affected female with fragile X syndrome [fra(X)]. The analysis of 6 flanking polymorphic DNA markers showed that the affection is transmitted, through the carrier daughters to the grandsons and the greatgrandsons and that the great-grandfather is a transmitting male. This observation led us to question the importance of these clinically normal males, who are nonexpressing carriers and termed transmitting males. One propositus, described as a mentally retarded young man, had inherited identical restriction polymorphisms from his mother. Chromosome analysis showed a Klinefelter syndrome, with a fragile site in 18% of the cells leading to the conclusion that the nondisjunction occurred at the first stage of the maternal meiosis.

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Martin‐Bell syndrome in Greece, with report of another 47,XXY fragile X patient

Cited by 14 publications

References 10 publications

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter Syndrome

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