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  • 11
    Electronic Resource
    Electronic Resource
    Springer
    Cellular and molecular life sciences 26 (1970), S. 917-918 
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Zusammenfassung Autoradiographisch wurde die späte DNS-Synthese derX- undY-Chromosomen vonDidelphis virginiana (Virginia Opossum) in Knochenmarkzellen untersucht. Die weiblichen Tiere zeigen typische späte Reduplikationsmuster in einemX, die männlichen das späte Reduplikationsmuster inX undY und inY allein.
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 59 (1981), S. 266-268 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A seven-year-old Japanese girl with mental retardation, epileptic seizures controllable by anticonvulsants, short stature, and multiple minor malformations was found to have apparent giant satellites on chromosome No. 13. The karyotypes of her parents and elder brother were normal. Banding studies revealed that the apparent giant satellites consist of four G-bands, and are thus a de novo rearrangement product. The origin of the aberrant No. 13 was traced to a paternal meiotic error, using Q-banding and silver staining heteromorphisms as markers. Thus, the patient represents an unbalanced, de novo chromosomal rearrangement masquerading as giant satellites, with the origin of the extra chromosomal material unknown, a hitherto undescribed situation.
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  • 13
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eight cases were ascertained as balanced carriers. A segregation analysis was performed on the 110 families so far published. It was concluded that the 11q;22q translocation is a relatively frequent event, and that all the cases thus far reported might have the same breakpoints at 11q23.3 and 22q11.2. The translocation seems to be independent of environmental factors and it seems to have a low rate of mutation as indicated by the scarcity of de novo cases. The new data confirmed that only one type of unbalanced karyotype (47,XX or XY+der(22)t(11;22)(q23.3;q11.2)) is found among the offspring of the translocation carriers. The minimal overall recurrence risk for an unbalanced translocation was estimated to 2%. There was no difference between the recurrence risks for male and female balanced carriers, while the trend was confirmed of an excess of female balanced carriers among the phenotypically normal offspring of the t(11;22) female carriers.
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  • 14
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 75 (1987), S. 75-78 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The effect of ethanol on the frequency of aphidicolin-induced common fragile sites was studied using lymphocyte cultures from two normal women. Aphidicolin was added to the cultures at a final concentration of 0.2 μM and ethanol at 0.02%, 0.1%, 0.2%, 0.5%, and 1%, both during the last 26 h of culture. The frequency of common fragile sites increased from 296% in subject 1 and 201% in subject 2 with aphidicolin plus 0.02% ethanol, to 765% and 823%, respectively, with aphidicolin plus 1% ethanol. Ethanol alone added to cultures did not induce common fragile sites. The gaps and breaks induced by aphidicolin plus ethanol were highly nonrandom. Altogether, 35 common fragile sites were identified. The addition of 1% ethanol to aphidicolin increased both random and nonrandom gaps and breaks as compared with that of 0.02% ethanol. Dimethyl sulfoxide added to culture at final concentrations of 0.02% to 1% did not change the frequency of aphidicolin-induced fragile sites. The frequency of fluorodeoxyuridine-induced fragile sites was not affected by the addition of 0.02% to 1% ethanol. It was thus concluded that ethanol enhances the aphidicolin-induced fragile sites, possibly inhibiting the repair mechanism of gaps and breaks induced by aphidicolin.
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  • 15
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 51 (1979), S. 147-151 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The maternal age distribution of 45,X abortuses was significantly lower than that of chromosomally normal abortuses in two co-ordinated studies. One, carried out in Geneva, included 44 X-monosomic abortuses and the other, in Hiroshima, was based on 38 abortuses with a 45,X karyotype. It was deduced that 45,X conceptuses result from either non-disjunction during paternal meiosis or anaphase lag during meiosis or mitosis, and that anaphase lag is more frequent among young couples than among older ones.
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  • 16
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 55 (1980), S. 87-98 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A total of 639 spontaneous abortuses collected in a maternity hospital were set up in culture. This sample included 565 unselected consecutive abortuses and 74 selected abortuses ascertained by morphology and/or clinical history. Among these, 339 were incomplete specimens with no recovered embryo or fetus, 110 were anatomically apparently normal and 190 were grossly abnormal. In the unselected series, 565 specimens were cultured and 402 were karyotyped; 215 (53.5%) were chromosomally abnormal. In the selected series, 74 specimens were set up in culture and 45 were karyotyped; 26 (57.7%) had an abnormal karyotype. In all, successful karyotyping was done on 447 abortuses (70%), of which 339 were studied with banding. One or more major chromosome abnormalities were detected in 241 (54%) of the karyotyped cases, 230 of which were numerical anomalies and 11 structural anomalies. Numerical anomalies included primary autosomal trisomies (31% of the total karyotyped), 45,X (10%), triploidy (6.5%), and tetraploidy (1.8%). Of the 22 types of autosomal trisomies possible, all except those for 1, 5, 17, and 19 were identified. An abortus with a 49,XX,+2,+5,+8 karyotype was detected. The excess autosomal material present in the triple trisomic abortus corresponded to 10% of the haploid autosomal complement. Of the 11 abortuses with structural abnormalities, seven were inherited while the other four were sporadic. The survival rate of 45,X conceptuses was estimated to be one in 300.
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  • 17
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 60 (1982), S. 373-375 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two unrelated patients with clinical features of 11p13 deletion syndrome, 3 years old and 3 months old, are reported. The clinical features of the patients included mental retardation, aniridia, nystagmus, blepharophimosis, and genitourinary abnormalities. Both patients were apparently free from Wilms' tumor and gonadoblastoma. Prometaphase banding analyses revealed a 46,XY,del(11)(p 1300p 1500) karyotype in one patient and 46,XX,dir ins(11;2)(p13;q12q23) in the other. Catalase activities in the erythrocytes in the two patients were respectively 65% and 56% of those of normal controls, close to the expected values in hemizygosity of the catalase gene. These findings confirmed a close linkage of the gene for catalase and those for the aniridia-Wilms' tumor or gonadoblastoma complex.
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  • 18
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 28-year-old man, whose infant son died of multiple malformations, was shown to have a balanced 13q-/18q+ translocation. He was phenotypically and mentally normal. Studies of the pedigree revealed the presence of bilateral microtia on the side of the spouse of the proband, transmitted in a dominant mode through four generations. Occasional cells from the proband and his mother exhibited an elongated long arm of a chromosome 16.
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  • 19
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hypoplasia, peripheral dysostosis, and blue eyes. The mother showed nasal hypoplasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive.
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  • 20
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 53 (1980), S. 285-285 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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