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  • 1
    Electronic Resource
    Electronic Resource
    Screening for Down's syndrome using an iso-risk curve based on maternal age and serum alpha-fetoprotein level (1987)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 94 (1987), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: On the basis of the significantly different distributions of maternal serum alpha-fetoprotein (AFP) levels in 86 pregnancies associated with fetal Down's syndrome and in 2018 unaffected pregnancies, an iso-risk curve for Down's syndrome was constructed. An iso-risk curve shows, for women of all ages, which combinations of maternal age and level of maternal serum AFP result in the same risk of carrying a fetus with Down's syndrome. A 1:400 risk of Down's syndrome, corresponding to the risk of a 35-year-old woman, was chosen as the lowest risk indicating referral for amniocentesis. If all women, irrespective of their age, are offered amniocentesis, when their risk of carrying a Down's syndrome fetus is 1;400 or higher, 53% of the affected fetuses can be detected as compared with 28% of the affected fetuses diagnosed at present in women above 35 years of age.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1987.tb03167.x
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  • 2
    Electronic Resource
    Electronic Resource
    KLINEFELTER'S SYNDROME IN CHILDREN (1970)
    Oxford, UK : Blackwell Publishing Ltd
    The @journal of child psychology and psychiatry 11 (1970), S. 0 
    Details
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1469-7610.1970.tb01016.x
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  • 3
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    The XYY Syndrome in a Mental Hospital (1968)
    London : Periodicals Archive Online (PAO)
    British Journal of Criminology, Delinquency and Deviant Social Behaviour. 8:2 (1968:Apr.) 186 
    Details
    ISSN: 0007-0955
    Topics: Law
    Description / Table of Contents: Research and Methodology
    Notes: CURRENT SURVEY
    URL: http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pao:&rft_dat=xri:pao:article:4065-1968-008-02-000005
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  • 4
    Electronic Resource
    Electronic Resource
    Chromosome Abnormalities and Psychotropic Drugs (1968)
    [s.l.] : Nature Publishing Group
    Nature 218 (1968), S. 488-489 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Table 1. GAPS, BREAKS AND HYPERDIPLOID CELLS IN PATIENTS TREATED WITH LSD OR PSYCHOPHARMACOTROPHIC DRUGS, AND IN CONTROLS Mean age and S.D. Cells examined Total Gaps Per cent Total Breaks Per cent Hyperdiploid cells Total Per cent Five psychiatric patients treated with LSD 36-4 ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/218488b0
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  • 5
    Electronic Resource
    Electronic Resource
    Growth hormone and 17β-oestradiol treatment of Turner girls – 2-year results (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 72-77 
    Details
    ISSN: 1432-1076
    Keywords: Key words: Turner syndrome – Growth stimulation – Oestradiol – Growth hormone – IGF-I
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Girls with Turner syndrome are mainly characterized by growth retardation and gonadal insufficiency. In order to evaluate the effect of growth hormone (GH) and/or low dose 17β-oestradiol (E2) on growth and pubertal development, 39 Turner girls with a chronological age (CA) of 7.6 – 18.1 years were divided into three groups depending on pretreatment bone age (BA). They were treated with either GH 0.1 IE/kg per day (n=13, BA 7.1 – 10.2), peroral E2 0.01 mg/kg per day (n=8, BA 8.5 – 12.7) or both (n=18, BA 10.5 – 15.3). In the 2nd year the E2 group also received GH, while the E2 dose was reduced 30%. In the 1st year height velocity (HV) expressed as standard deviation scores (SDS) increased in all groups (mean: from −0.4 to 3.3 (P〈0.01) in the GH group, −0.5 to 2.7 (P〈0.01) in the E2 group, and −0.8 to 4.6 (P〈0.001) in the GH+E2 group. A possible synergistic effect from combination therapy was seen, as HV increase was higher in group 3 than groups 1 and 2 (P〈0.05). In the 2nd year HV was unchanged in groups 1 and 2, while a clear decrease was seen in the GH+E2 group (P〈0.001). In the 1st year BA progression in the E2 group was rapid (1.9 BA/CA year) and higher than in the other groups (P〈0.05). In the 2nd year progression slowed down – particularly in the E2 group (0.7 BA/CA year, P=0.07). Predicted final height (PFH) increased gradually over the 2 years in the GH group up to 4.1 cm (P〈0.01), while in the GH+E2 group PFH increased 2.6 cm (P=0.001) after 1 year, but progressed no further during the 2nd year. In the E2 group PFH decreased −3.1 cm (P=0.055) during the 1st year, while in the 2nd year PFH returned to pretreatment levels. Insulinlike growth factor (IGF-I) increased during the 1st year in the GH and the GH+E2 groups (P〈0.01 and P〈0.05), while it was unchanged in the E2 group (P〉0.4). Except for some of the youngest and oldest girls, breast development was appropriate. No major side-effects were noted. In one girl growth of naevi was noted, but they disappeared spoontaneously within 3 months. We conclude that GH and peroral E2 both stimulate HV and appear to have a synergistic effect. The effect of peroral E2 is not mediated by increasing IGF-I. When BA is below 11 years, E2 leads to an accelerated BA maturation, which potentially decreases final height. An initial dose lower than 10 µg E2/kg per day and a minimum BA of 11 years are recommended to initiate treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959210
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  • 6
    Electronic Resource
    Electronic Resource
    Growth hormone and 17β-oestradiol treatment of Turner girls — 2-year results (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 72-77 
    Details
    ISSN: 1432-1076
    Keywords: Turner syndrome ; Growth stimulation ; Oestradiol ; Growth hormone ; IGF-I
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Girls with Turner syndrome are mainly characterized by growth retardation and gonadal insufficiency. In order to evaluate the effect of growth hormone (GH) and/or low dose 17β-oestradiol (E2) on growth and pubertal development, 39 Turner girls with a chronological age (CA) of 7.6–18.1 years were divided into three groups depending on pretreatment bone age (BA). They were treated with either GH 0.1 IE/kg per day (n=13, BA 7.1–10.2), peroral E2 0.01 mg/kg per day (n=8, BA 8.5–12.7) or both (n=18, BA 10.5–15.3). In the 2nd year the E2 group also received GH, while the E2 dose was reduced 30%. In the 1st year height velocity (HV) expressed as standard deviation scores (SDS) increased in all groups (mean): from −0.4 to 3.3 (P〈0.01) in the GH group, −0.5 to 2.7 (P〈0.01) in the E2 group, and −0.8 to 4.6 (P〈0.001) in the GH +E2 group. A possible synergistic effect from combination therapy was seen, as HV increase was higher in group 3 than groups 1 and 2 (P〈0.05). In the 2nd year HV was unchanged in groups 1 and 2, while a clear decrease was seen in the GH+E2 group (P〈0.001). In the 1st year BA progression in the E2 group was rapid (1.9 BA/CA year) and higher than in the other groups (P〈0.05). In the 2nd year progression slowed down-particularly in the E2 group (0.7 BA/CA year,P=0.07). Predicted final height (PFH) increased gradually over the 2 years in the GH group up to 4.1 cm (P〈0.01), while in the GH+E2 group PFH increased 2.6 cm (P=0.001) after 1 year, but progressed no further during the 2nd year. In the E2 group PFH decreased −3.1 cm (P=0.055) during the 1st year, while in the 2nd year PFH returned to pretreatment levels. Insulin-like growth factor (IGF-I) increased during the 1st year in the GH and the GH+E2 groups (P〈0.01 andP〈0.05), while it was unchanged in the E2 group (P〉0.4). Except for some of the youngest and oldest girls, breast development was appropriate. No major side-effects were noted. In one girl growth of naevi was noted, but they disappeared spontaneously within 3 months. We conclude that GH and peroral E2 both stimulate HV and appear to have a synergistic effect. The effect of peroral E2 is not mediated by increasing IGF-I. When BA is below 11 years, E2 leads to an accelerated BA maturation, which potentially decreases final height. An initial dose lower than 10 μg E2/kg per day and a minimum BA of 11 years are recommended to initiate treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959210
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  • 7
    Electronic Resource
    Electronic Resource
    Father and son with karyotype 47,XY,?Yq- (1971)
    Springer
    Human genetics 〈Berlin〉 11 (1971), S. 247-252 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über einen 22jährigen Mann und seinen Vater berichtet. Beide hatten 47 Chromosomen: Ein zusätzliches metazentrisches kleines Chromosom und den angenommenen Karyotyp 47,XY, ?Yq-. In diesem Zusammenhang wird die Literatur über Fälle mit 47 Chromosomen und einem kleinen metazentrischen Extrachromosom diskutiert. Die Autoren gelangen zu der Schlußfolgerung, es sei unwahrscheinlich, daß eine neue cytogenetisch charakterisierte Krankheit, “das Syndrom des metazentrischen Mikrochromosoms”, wie Abbo u. Zellweger (1970) es annehmen, in der Tat existiert. Personen mit 47 Chromosomen und einem kleinen metazentrischen Extrachromosom haben sehr wahrscheinlich eine große Anzahl verschiedener Chromosomenaberrationen, einige autosomalen und andere geschlechtschromosomalen Ursprungs.
    Notes: Summary A 22-year-old man and his father, both with 47 chromosomes, an extra small metacentric chromosome and the presumptive karyotype of 47,XY, ?Yq-, are presented. Literature concerning cases with 47 chromosomes and a small metacentric chromosome is reviewed and discussed. It is concluded that it is unlikely that persons with 47 chromosomes and an extra small metacentric chromosome constitute a new cytogenetic disease “the syndrome of the metacentric microchromosome”, as suggested by Abbo and Zellweger (1970). Persons with 47 chromosomes and an extra small metacentric chromosome have most probably a great variety of chromosomal aberrations, some of autosomal and some of sex chromosomal origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274745
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  • 8
    Electronic Resource
    Electronic Resource
    Partial XYY syndrome (1971)
    Springer
    Human genetics 〈Berlin〉 12 (1971), S. 323-329 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über einen 13 Jahre alten Jungen berichtet mit 47 Chromosomen, einem zusätzlichen kleinen metazentrischen Chromosom und der Karyotype 47,XY, ?Yq-. Er weist die typischen psychischen Symptome für Jungen mit der Karyotype 47,XYY auf, wie man aus den tabellarisch dargestellten Ergebnissen der psychiatrischen Untersuchung von insgesamt 22 Jungen mit XYY-Syndrom, die am cytogenetischen Labor, Århus State Hospital, Risskov, untersucht wurden, ersehen kann.
    Notes: Summary A 13-year-old boy with 47 chromosomes, an extra small metacentric chromosome and karyotype 47,XY,?Yq- is presented. He has psychiatric symptoms typical of boys with karyotype 47,XYY as seen in the tabulated results of a psychiatric study of 22 boys with the XYY syndrome, examined at the Cytogenetic Laboratory, Århus State Hospital, Risskov.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278052
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  • 9
    Electronic Resource
    Electronic Resource
    Pericentric Y inversion in the general population (1973)
    Springer
    Human genetics 〈Berlin〉 19 (1973), S. 265-270 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Zwei männliche Individuen mit einer perizentrischen Inversion des Y-Chromosoms wurden unter 1115 Männern gefunden, die für den Militärdienst gemustert wurden. Das entspricht der Häufigkeit bei Neugeborenen (2 unter 2615 in Dänemark; Friedrich u. Nielsen, 1973). Beide Untersuchten zusammen deuten auf eine Häufigkeit von ungefähr 1:1000 hin. Die perizentrische Y-Inversion fand sich bei allen untersuchten männlichen Verwandten. Körperliche und psychiatrische Untersuchung ergab keinen Hinweis für irgendeine häufige Störung. Auch ergab sich kein Hinweis auf andere Chromosomenaberrationen bei Familienangehörigen. Offenbar ist die perizentrische Y-Inversion nicht mit irgendeiner Abweichung in Persönlichkeit oder Intelligenz verbunden. Es fehlt auch jeder Hinweis auf ein erhöhtes Risiko für körperliche Störungen oder für Nondisjunction.
    Notes: Summary Two males with pericentric inversion of the Y chromosomes were found among 1115 males examined for military service. This correlates well with the finding of 2 out of 2615 newborn Danish boys with pericentric Y inversion (Friedrich and Nielsen, 1973). The results of these two studies indicate that the prevalence of pericentric Y inversion in the general population is approximately 1 per 1000. The pericentric Y inversion was found in all male relatives examined. Psychiatric and physical examination revealed no indications of any common aberrations, and there were no suggestions of any family members with other chromosome aberrations. It is concluded that there are no indications that pericentric Y inversion is connected with any deviations in personality and intelligence or with an increased risk of physical disorders or non-disjunction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278400
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  • 10
    Electronic Resource
    Electronic Resource
    Structural aberration in chromosome No. 2 (1973)
    Springer
    Human genetics 〈Berlin〉 19 (1973), S. 281-284 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wurden zwei Männer mit gaps und Brüchen in einem Chromosomen Nr. 2, annähernd bei 2q12, beobachtet. Diese Aberration hat sehr wahrscheinlich keine nachteilige Wirkung auf die körperliche oder geistige Entwicklung.
    Notes: Summary Two males with gaps and breaks in a chromosome No. 2, at approximately 2q12 are presented. It is concluded that this aberration most probably has no deleterious effect on physical or mental development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278403
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