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  • 1
    Electronic Resource
    Electronic Resource
    Diagnosis of fragile X syndrome by direct mutation analysis (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 143-147 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A total of 27 fragile X pedigrees consisting of over 100 nuclear families were analyzed by Southern blotting methods and probes StB12.3 and StB12.3xx to detect the expansion of the (CGG) n repeat within the FMR-1 gene and the abnormal methylation pattern of the adjacent DNA region responsible for the fragile X syndrome. Clinical expression was found to be associated with the presence of a full mutation (Δ 〉 500 bp, associated with abnormal methylation) in all the males and 50% of the females studied, whereas individuals carrying a premutation (Δ = 100–700 bp) were normal. A preferential size increase in the enlarged (CGG) n repeat was detected in successive generations, the instability being stronger when transmitted from a female than from a male. No expansion of the premutation to the full mutation occurred in the paternal transmissions, and the size increase was significantly smaller than in the maternal transmissions. This could partly explain the stability of the premutation through several generations in families with transmitting males. In the maternal transmissions, the risk of expansion of a premutation to a full mutation appeared to depend on its size. The critical maternal premutation size leading invariably to the full mutation was between Δ = 175–200 bp. This is important for genetic counseling and also explains the commonly observed clustering of affected individuals in fragile X families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210599
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  • 2
    Electronic Resource
    Electronic Resource
    A molecular and cytogenetic study in Finnish Prader-Willi patients (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 568-571 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11–q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and molecular techniques. Of the 27 clinically typical PWS patients, 23 (85%) had a molecular deletion that could be classified into four size categories. Only 15 of them (71%) could be detected cytogenetically. Maternal uniparental heterodisomy was observed in four cases. The rest of the patients showed no molecular defects including rare imprinting mutations. In our experience, the use of the methylation test with the probe PW71 (D15S63), together with the probe hN4HS (SNRPN), which distinguishes between a deletion and uniparental disomy, is the method of choice for the diagnosis of PWS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223871
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  • 3
    Electronic Resource
    Electronic Resource
    Uridine enhances expression of the fragile X chromosome in human lymphocytes (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 95-96 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have studied the effect of uridine on the expression of fragile X (fra[X]) in lymphocyte cultures established in the folate and thymidine deficient medium TC199. The results indicate that uridine enhances the expression of fra(X) and gives a higher mitotic rate. The excess of uridine during DNA synthesis might further promote the previously suggested cycle of misincorporation and removal of deoxyuridine monophosphate when the pool of deoxythymidine triphosphate is continuously depleted.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01213102
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  • 4
    Electronic Resource
    Electronic Resource
    Molecular cytogenetic study of patients with Pallister-Killian syndrome (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 121-127 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The Pallister-Killian syndrome (PKS) is characterized by tissue limited chromosomal mosaicism, i.e. the presence of a supernumerary metacentric chromosome [i(12p)] often confined to skin fibroblasts while the karyotype of cultured lymphocytes is normal. In the present study, chromosome painting by chromosomal in situ suppression (CISS) hybridization and interphase cytogenetic procedures employing biotinylated or digoxigenin labelled probes was carried out. These probes comprised a chromosome 12 specific library (LA 12NSO1) and chromosome 12 centromere specific α-satellite (pSP12-1). They were used to analyse and quantify the presence of i(12p) in lymphocytes, granulocytes/monocytes, skin fibroblasts and buccal mucosal cells from five patients and one aborted fetus with PKS, and ten normal donors. CISS hybridization on mitotic skin fibroblasts reliably indicated the presence of i(12p) cells, even when metaphases of poor quality were included in the analysis. Two of the five patients showed i(12p) in a small proportion (≤0.5%) of the cultured lymphocytes too. The interphase cytogenetics procedure did not reveal the isochromosome in lymphocytes or granulocytes/monocytes in any of the patients. Two of the six patients had a twofold increase in the number of buccal mucosal cells with three hybridization signals over control values. However, for mucosal cells, methodological improvements are required. For cytogenetic diagnosis of PKS, cultured fibroblasts subjected to chromosome painting by CISS hybridization with a chromosome 12 specific library probe are recommended.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00222711
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  • 5
    Electronic Resource
    Electronic Resource
    A new RFLP withStuI and probe cX55.7 (DXS105) and its usefulness in carrier analysis of fragile X syndrome (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 193-193 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The authors report on a new RFLP at DXS105 suitable for carrier detection of fragile X syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00702869
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  • 6
    Electronic Resource
    Electronic Resource
    Population cytogenetics of folate-sensitive fragile sites (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 344-348 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The location and frequency of folate-sensitive common fragile sites (CFS) were studied in three populations: (1) 111 mentally retarded children of school age, (2) 240 mentally subnormal children attending special schools, and (3) 85 healthy children attending normal schools. Common fragile sites were found at 54 chromosomal bands including also the band Xq27, where gaps and breaks were detected in 4% of the children. The most frequent CFS were FRA3B (at 3p14.2), FRA6E (at 6q26), and FRA16D (at 16q23) seen in 73%, 65%, and 58% of the individuals totally studied. The frequencies of CFS-positive individuals did not differ among the populations. The variation found in the distribution of CFS among the populations was primarily assumed to be due to sampling differences and study method. The rate of expression of the most frequent CFS varied significantly among the individuals, seeming to suggest that polymorphism exists at those CFS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273649
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  • 7
    Electronic Resource
    Electronic Resource
    An increased frequency of chromosomal changes and SCE's in cultured blood lymphocytes of 12 subjects vaccinated against smallpox (1978)
    Springer
    Human genetics 〈Berlin〉 41 (1978), S. 89-96 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An increased frequency of chromosomal changes and sister chromatid exchanges was detected in 10 women 7 days after smallpox vaccination.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278874
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