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  • Artikel: DFG Deutsche Nationallizenzen  (6)
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  • Artikel: DFG Deutsche Nationallizenzen  (6)
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Erscheinungszeitraum
  • 1
    Digitale Medien
    Digitale Medien
    FERTILITY IN WOMEN WITH TURNERS SYNDROME CASE REPORT AND REVIEW OF LITERATURE (1979)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 86 (1979), S. 0 
    Details
    ISSN: 1471-0528
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Medizin
    Notizen: A successful pregnancy in a woman with Turner's syndrome with a 45, X/46,XX karyotype is described. The literature contains reports of a total of nine pregnancies in seven women with a 45,X karyotype and 56 pregnancies in 23 women with mosaicism and a 45,X cell line, as well as a 46,XX and/or 47,XXX cell line. Fifteen of the latter 56 pregnancies ended in spontaneous abortion (27 per cent), and four ended in the delivery of a stillborn child; 12 of the 37 liveborn infants (32 per cent) had a physical or mental abnormality, and 8 (22 per cent) had a chromosome abnormality. Three had Down's syndrome, and five had a 45,X cell line. Due to the relatively high (8 per cent) incidence of Down's syndrome among liveborn infants of women with Turner's syndrome, amniocentesis for fetal karyotyping should be advised.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1111/j.1471-0528.1979.tb10706.x
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  • 2
    Digitale Medien
    Digitale Medien
    Incidence of chromosome aberrations among 11 148 newborn children (1975)
    Springer
    Human genetics 〈Berlin〉 30 (1975), S. 1-12 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Chromosome analysis has been made of 11 148 children; 29 had sex chromosome abnormalities (2.60 per 1000) and 64 autosomal abnormalities (5.74 per 1000). The total incidence of major chromosome abnormalities was 8.34 per 1000. The incidence of chromosome variations was 16.8 per 1000. The most common variants were those with variation in size of short arms-satellites in D and G chromosomes and variations in Y chromosome size. So far, very little is known about the significance of such chromosome variations. The incidence of most chromosome abnormaliies in liveborn children is well established by now from studies of a total of 54749 consecutively liveborn children in 6 studies as shown in Table 1. More chromosome studies of liveborn children are, however, needed for several purposes such as finding families with chromosome translocations, studying segregation rates and giving genetic advice to families with inheritable chromosome aberrations and an increased risk of getting children with unbalanced chromosome abnormalities, mental retardation and physical abnormalities. One of the main purposes in chromosome examination of newborn children is to study the development of children with different chromosome abnormalities, especially those with sex chromosome abnormalities, and compare them with controls, treat them when needed and give advice to the parents of such children.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00273626
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  • 3
    Digitale Medien
    Digitale Medien
    A boy with 47,X,del(X)(p11→q13::q21→q24),del(Y)(q11) (1976)
    Springer
    Human genetics 〈Berlin〉 31 (1976), S. 227-230 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Before the introduction of the banding technique we studied a boy presented as a case of 47,XY,?Yq- (Christensen and Nielsen, 1971). The case has been restudied with the use of different types of banding, which revealed the following karyotype 47,X,del(X) (p11→q13::q21→q24),del(Y) (q11).
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00296150
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  • 4
    Digitale Medien
    Digitale Medien
    Follow-up till age 3–4 of unselected children with sex chromosome abnormalities (1976)
    Springer
    Human genetics 〈Berlin〉 33 (1976), S. 241-257 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Follow-up examination of 15 unselected children with aneuploid sex chromosome abnormalities has been made till between the age of 21/2 and 5 years. The mental development of the 15 children was in all cases within the normal range, but there was a tendency to some differences compared with their siblings.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00286848
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  • 5
    Digitale Medien
    Digitale Medien
    Center for barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter→ p22::p22→qter) (1976)
    Springer
    Human genetics 〈Berlin〉 33 (1976), S. 337-340 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary An 11-year-old girl with karyotype 45,X/46,X,dic(X) (Xqter→p22::p22→qter) is presented. The abnormal X is always found to be the inactive and late replicating X, and according to previous investigations by Therman et al. (1974) part of the cells are seen to have bipartite Barr bodies.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00286864
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  • 6
    Digitale Medien
    Digitale Medien
    A case report of an autistic girl with an extra bisatellited marker chromosome (1977)
    Springer
    Journal of autism and developmental disorders 7 (1977), S. 263-267 
    Details
    ISSN: 1573-3432
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Psychologie
    Notizen: Abstract Cytogenetic examination of a 14, year, old severely retarded girl revealed a karyotype of 47 chromosomes with an extra bisatellited chromosome, a translocation between No. 22 and a chromosome in the D group. The girl had presented an early autistic syndrome beginning about 6 months of age during plastering for a congen ital luxation of the hips and receding from the age of 5. In addition, she was hyperkinetic with various aggressive and autoaggressive traits and had atypical minor epileptic fits. Data from child psychiatric examinations at 5 and 14 years are presented. The importance of giving parents information as early as possible about biological causes of mental retardation and mental illness is stressed.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01539002
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