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  • 1975-1979  (22)
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Year
  • 1
    Electronic Resource
    Electronic Resource
    La trisomie 4p (1975)
    Springer
    Human genetics 〈Berlin〉 30 (1975), S. 99-108 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Résumé Trois nouveaux cas de trisomie 4p sont rapportés. Deux observés chez des germains sont liés à une translocation maternelle t (4;15). Le troisième cas est dû à une duplication en miroir du bras court du chromosome 4, il s'agit du premier cas de trisomie 4p sans remaniement parental équilibré. Les principales caractéristiques cliniques et chromosomiques du syndrome sont étudiées à partir des observations de la littérature.
    Notes: Summary Three new observations of trisomy 4p are reported. Two are due to a maternal translocation t(4;15). The third is due to a “mirror” duplication, it is the first case of trisomy 4p without balanced parental rearrangement. The very characteristic phenotype is compared to that of 13 other patients already reported in the literature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291941
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  • 2
    Electronic Resource
    Electronic Resource
    Four new cases of dicentric Y chromosomes (1977)
    Springer
    Human genetics 〈Berlin〉 36 (1977), S. 249-260 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Dicentric Y chromosomes are rare in man. Four new cases of dicentric Y chromosomes are described. The cases of the literature so far reported are reviewed. Among the cases, a wide range of variation in phenotype, external genitalia, histology, and chromosomal findings was observed. The relationship of the clinical picture and structural abnormalities of the Y chromosomes is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446273
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  • 3
    Electronic Resource
    Electronic Resource
    Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects (1976)
    Springer
    Human genetics 〈Berlin〉 31 (1976), S. 161-175 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Breakpoint distribution was studied from cultured lymphocytes on 7653 metaphases from 524 subjects whose karyotypes were normal. The mean break rate was 5% in both sexes. The frequency increased significantly after 40 years and varied during the year. The location of the breaks was very different from the expected random distribution. The break frequency for each chromosome was different according to the type of break (chromatid, simple chromosomal and chromosomal involving rearrangements). The location of the breaks was also studied according to the type of band and with respect to the centromere. A comparison between spontaneous breaks, X-ray induced breaks, breaks in Fanconi's anemia and in congenital rearrangements, show very significant differences.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296144
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  • 4
    Electronic Resource
    Electronic Resource
    Constitutional chromosomal breakage (1976)
    Springer
    Human genetics 〈Berlin〉 34 (1976), S. 125-136 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary There were 18 individuals found to have a constitutional chromosome fragility causing an increase in break frequency. For each chromosome the breakpoint is always the same, whether it involves chromosomes from the same person, the same family, or different families. The fragile points are bands 10q24, 12q13, 16q21, 17p12, and Xq27. Autosomal constitutional fragility does not seem to have a phenotypic correspondence. They were found mostly in parents of children with chromosomal abnormalities or in couples with a history of repeated spontaneous abortions which permits one to raise the possibility of an interchromosomal effect. The six constitutional chromosomal fragilities of the X chromosome had in common the association of mental deficiency, delayed speech, and large malformed ears. The break points in constitutional chromosomal fragility were compared to those of spontaneous breaks in vitro, to those induced by X-rays, and to those in Fanconi's anemia. The theoretical consequences of these structural abnormalities are discussed as well as what to do about them when they are found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278880
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  • 5
    Electronic Resource
    Electronic Resource
    Quantitative and qualitative study of acrocentric associations in 109 normal subjects (1976)
    Springer
    Human genetics 〈Berlin〉 34 (1976), S. 185-194 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This study involving 109 normal subjects shows that the mean number of associations by cell seems to represent a biological constant which is not sex related and increases with age, especially after 33 years. From a qualitative point of view, the associations are not at random and their distribution varies from one individual to another. The tendency to associate is a characteristic of a given chromosome in a given individual.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278887
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  • 6
    Electronic Resource
    Electronic Resource
    A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter→p22::p22→qter)) (1977)
    Springer
    Human genetics 〈Berlin〉 38 (1977), S. 39-48 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295806
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  • 7
    Electronic Resource
    Electronic Resource
    Origin of the extra chromosome in trisomy 21 (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 107-110 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Of 61 families of children with trisomy 21, polymorphism of chromosome 21 elucidating the origin of the extra chromosome was found in 42. Nondisjunction was of paternal origin in 8 cases (19.04%) and the anomaly occurred with equal frequency during the first and second meiotic divisions. Maternal nondisjunction was demonstrated in 34 cases (80.95%), in which nondisjunction occurred by far the most often during the first meiotic division (29 cases). These results are in agreement with data from the literature, and suggest the existence of at least two different causes for chromosomal nondisjunction, the first being the same in both sexes and occurring in both meiotic divisions and the second specifically limited to the first meiotic division in the mother.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278908
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  • 8
    Electronic Resource
    Electronic Resource
    Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation (1979)
    Springer
    Human genetics 〈Berlin〉 51 (1979), S. 55-61 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A woman presented a complex chromosome rearrangement with translocation between chromosome 2 and 4 in addition to an insertion of the band 4q12→q13 in the long arm of chromosome 18. The authors present a case study of the daughter who displayed the abnormal chromosome 18 and trisomy of band 4q12→q13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278292
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  • 9
    Electronic Resource
    Electronic Resource
    A dynamic study in two new cases of X chromosome translocations (1978)
    Springer
    Human genetics 〈Berlin〉 41 (1978), S. 251-257 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The authors discuss the clinical and cytogenetic problems raised in two new cases of X-chromosome translocations. The first case involves a child who presented marked growth retardation, behavioral anomalies, and discrete facial malformations at age 3 months. Chromosome analysis revealed the presence of a translocation between a 22 and X chromosome resulting in partial X monosomy and partial trisomy 22: 46,X,der(X),t(X;22)(q112;q13)mat. The balanced translocation form was detected in the mother. Dynamic study after 5-Brdu treatment revealed inactivation of the translocated X chromosome in the proband, while in the mother the normal X chromosome was inactivated. In addition to magnesium dependent hypocalcemia resulting from a specific absorption anomaly, Case 2 presented discrete malformations and psychomotor retardation. Chromosome analysis revealed an apparently balanced translocation between a 9 and X chromosome: 46,X,r(9;X)(q12; p22). Treatment with 5-Brdu demonstrated that the translocated X chromosome was inactivated but that inactivation did not extend to the translocated part of chromosome 9. Finally, a pericentric inversion of a 9 chromosome was detected in the father, grandfather, and brother of the proband.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284758
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  • 10
    Electronic Resource
    Electronic Resource
    Trisomie partielle 11q et translocation familiale 11–22 (1975)
    Springer
    Human genetics 〈Berlin〉 28 (1975), S. 343-347 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Résumé Les auters apportent l'observation d'une translocation familiale t(11;22) responsable chez deux enfants d'une trisomie partielle 11q. Seule l'utilisation des nouvelles techniques de marquage permet de détecter l'existence de translocation où les fragments échangés sont de dimensions identiques.
    Notes: Summary By heat denaturation, a reciprocal translocation was found in the mother of two malformed sibs. In her 46,XX,6(11;22)(q23;q11) caryotype, the rearranged elements exhibit no change of length. The 2 sibs are trisomic for the distal part of the long arm of chromosome 11.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284809
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