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  • 1
    Electronic Resource
    Electronic Resource
    Chromosomal aberrations and anticonvulsant drugs
    Amsterdam : Elsevier
    Mutation Research Letters 21 (1973), S. 35 
    Details
    ISSN: 0165-7992
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0165-7992(73)90047-X
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  • 2
    Electronic Resource
    Electronic Resource
    Ring G-Chromosom (1971)
    Springer
    Human genetics 〈Berlin〉 12 (1971), S. 142-155 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über zwei statisch und geistig retardierte Mädchen mit Ring G-Chromosom berichtet, die einige für Mongolismus typische Merkmale zeigten. Bei einem der Kinder fanden sich auch Symptome, wie sie beim “Antimongolismus”-Syndrom beschrieben wurden. Die Befunde werden mit den bisher mitgeteilten Beobachtungen bei Ring G-Trägern und Patienten mit entsprechenden G-Aberrationen verglichen. Dabei zeigt sich, daß es kein einheitliches Ring G-Syndrom gibt, die klinischen Bilder bei Ring G sich aber meistens in eine der verschiedenen phänotypischen Gruppen bei vergleichbaren G-Aberrationen einordnen lassen.
    Notes: Summary Two infants with physical and mental retardation and some signs typical of mongolism are reported. One of them also showed symptoms characteristic of “antimongolism”. The clinical picture is compared with former reported findings in patients with ring G-chromosome and other comparable G-aberrations. It could be shown that the ring G-karyotype is not correlated with a well defined ring G-syndrome; but the clinical picture of patients with ring G is in most cases consistent with one of the phenotypical groups of comparable G-aberrations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291470
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  • 3
    Electronic Resource
    Electronic Resource
    C 11/D 13-translocation in four generations (1972)
    Springer
    Human genetics 〈Berlin〉 14 (1972), S. 300-305 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung In einem Stammbaum mit familiärer C 11/D 13-translokation wurden die Chromosomen von 18 Personen in 4 Generationen untersucht. Bei 8 Personen fand sich ein normaler Karyotyp, in 8 Fällen war eine balancierte Translokation vorhanden. Insgesamt wurden 7 Kinder mit verschiedenen Mißbildungen registriert, von denen 5 zur Zeit der Untersuchung bereits verstorben waren. Bei den beiden anderen wurde eine unbalancierte C 11/D 13-Translokation mit partieller trisomie für den langen Arm des Chromosoms C 11 gefunden. Diese Kinder wiesen das gleiche Mißbildungssyndrom mit geistiger Retardierung, geringem Geburtsgewicht, Cutis laxa, Hypertelorismus, breiter flacher Nase, Mikrognathie mit eingezogener Unterlippe, Herzfehler und Hautleistendysplasien auf. Eine Frau der dritten Generation wies neben der balancierten C 11/D 13-Translokation ein Triplo-X auf. Von 10 Schwangerschaften endeten bei dieser Frau 5 mit einem Abort, 2 Kinder starben an multiplen Mißbildungen, und lediglich 3 Kinder waren gesund.
    Notes: Summary In a pedigree with familial C 11/D 13-translocation the chromosomes of 18 persons in 4 generations were analyzed. 8 of them had a normal karyotype, in 8 cases a balanced translocation was found. Totally 7 children with different multiple malformations were observed, 5 of whom had already died at the time of investigation. The other 2 showed an unbalanced translocation C 11/D 13 with partial trisomy for the long arm of chromosome C 11. These children showed the same syndrome (mental retardation, low birth weight, cutis laxa, hypertelorism, broad flat nose, micrognathia with retracted lower lip, heart malformation, ridge dysplasia of dermatoglyphics). One woman of the third generation with a balanced translocation C 11/D 13 additionally showed a triplo-X constitution. Among 10 pregnancies this woman had 5 abortions and 5 children, 2 of them with multiple malformations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00290171
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  • 4
    Electronic Resource
    Electronic Resource
    Chromosomenuntersuchungen bei behandlung mit Anticonvulsiva (1972)
    Springer
    Human genetics 〈Berlin〉 16 (1972), S. 209-216 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Bei 32 mit Anticonvulsiva behandelten Epileptikerinnen und ihren in der Schwangerschaft diesen Medikamenten ausgesetzten Kindern im Alter von 0–3 Jahren lag die Rate struktureller Chromosomenaberrationen signifikant (p〈0,001) über den Werten der unbehandelten, gesunden Vergleichspersonen. Da in den meisten Fällen verschiedene Anticonvulsiva gleichzeitig eingenommen worden waren, konnte nicht entschieden werden, ob Unterschiede in der chromosomenaberrationsauslösenden Wirkung zwischen den einzelnen Anticonvulsiva-Präparate-Gruppen bestehen. Zwischen den Werten der Mütter und der jeweiligen Kinder bestand eine signifikante Korrelation. Hinweise auf eine teratogene Wirkung der untersuchten Anticonvulsiva-Präparate ergaben sich nicht. Die Häufigkeit von Aborten, Totgeburten und mißgebildeten Kindern war in der vorliegenden Untersuchung nicht erhöht.
    Notes: Summary The chromosome aberration rates of 32 women, suffering from epilepsy and treated with anticonvulsant drugs, and those of their children (aged 0–3 years), who had been exposed to the drugs during pregnancy, lay highly significant (p〈0.001) above the values of untreated healthy control persons. As different anticonvulsant drugs were taken simultaneously in most cases, it could not be ascertained whether differences existed in the aberration-inducing effects of the various anticonvulsant drug groups. A significant correlation was found between the aberration rates of the mothers and their respective children. There was no indication of a teratogenic action by the anticonvulsant drugs. Within this examination, the frequency of abortions, stillbirths and malformed children lay within the normal range.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273466
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  • 5
    Electronic Resource
    Electronic Resource
    Doppelte aneuploidie: 46,XX/45,XO/47,XX,G+ (1971)
    Springer
    Human genetics 〈Berlin〉 13 (1971), S. 333-337 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über ein 7jähriges Mädchen berichtet, bei dem im Mosaik Zellen mit Trisomie 21, Monosomie X und normalem weiblichem Karyotyp gefunden wurden. Klinisch bot die Patientin das abgeschwächte Erscheinungsbild des Mongolismus. Die für das Turner-Syndrom typischen äußeren Veränderungen traten demgegenüber zurück.
    Notes: Summary A 7 year old girl is found to have a chromosome mosaic of trisomy 21, monosomy X, and normal female karyotype. The patient showed some clinical symptoms of mongolism, whereas Turner-stigmata were less obvious.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273950
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  • 6
    Electronic Resource
    Electronic Resource
    Partial monosomy 13 as the result of a balanced translocation 3/13 pat (1975)
    Springer
    Human genetics 〈Berlin〉 28 (1975), S. 93-96 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a 41/3-year-old girl we found the karyotype 45,XX,del13(pter→q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12)). Psychological investigation of the patient revealed almost normal intelligence (DQ 91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00735740
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  • 7
    Electronic Resource
    Electronic Resource
    G/G-Translokation im Mosaik bei einem Mädchen mit schwach ausgeprägtem Erscheinungsbild des Mongolismus (1971)
    Springer
    Human genetics 〈Berlin〉 13 (1971), S. 315-319 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über ein 5jähriges Mädchen mit G/G-Translokation im Mosaik berichtet (9,3% Zellen mit 2 n=46,XX,G-,t(GqGq)+). Bei dem Kind fand sich eine für Mongolismus relativ hohe Intelligenz (EQ 0,8). Die für Mongolismus typischen Merkmale waren zwar in größerer Zahl vorhanden, aber meist nur schwach ausgeprägt. Die Papillarleisten waren in der für Mongolismus typischen Weise verändert.
    Notes: Summary A 5 year old girl is described with a translocation G/G in a mosaic (9,3% cells with 2 n=46,XX,G-,t(GqGq)+). The intelligence of the child was rather high (EQ 0,8). Though a great number of the typical symptoms of mongolism were observed, they were mostly but faintly marked. The dermatoglyphics were changed in the way typical for mongolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273947
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  • 8
    Electronic Resource
    Electronic Resource
    Partial monosomy 13 as the result of a balanced translocation 3/13 pat (1975)
    Springer
    Human genetics 〈Berlin〉 29 (1975), S. 354-354 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00394200
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  • 9
    Electronic Resource
    Electronic Resource
    Partial trisomy 10p (1975)
    Springer
    Human genetics 〈Berlin〉 29 (1975), S. 141-144 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00430351
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  • 10
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    Unknown
    Ring G-Chromosom (1971)
    Springer
    Details
    Publication Date: 1971-01-01
    Print ISSN: 0340-6717
    Electronic ISSN: 1432-1203
    Topics: Biology , Medicine
    Published by Springer
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