Summary
This review summarizes three areas of human cytogenetics:
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1.
Studies of over 10,000 unselected live-born infants from four different series reveal an incidence of chromosomal aberrations of 1:200. About 50% of anomalies involve the chromosome structure; abnormalities of the sex chromosomes and the autosomes occur with equal frequency; about 50% of infants with a chromosomal aberration are clinically inapparent. The most frequent numerical anomalies are the XXY- and the XYY-condition, and the most frequent structural aberration is the translocation DqDq between two chromosomes of group D.
According to work of Lubs and Ruddle, minor variants of the normal karyotype occur in the different chromosomal groups with following frequencies: A-group: 1.1%, B-group: 0.04%, C-group: 0.16%, D-group: 16.9%, E-group: 4.2%, F-group: 0.08%, G-group: 6.2%, Y-chromosome: 5.6%.
Recent studies of the familial translocation DqGq disclose a smaller than expected risk for trisomie offspring to translocation heterozygotes: about 15–18% for female and 2–3% for male carries of this translocation.
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2.
Several studies concerning the assignment of gene loci to autosomes are reviewed. At present, the following genes could be assigned to human autosomes with varying degrees of certainty: (I) Duffy blood group and congenital zonular pulverent cataract on or near the proximal long arm of chromosome 1; (II) MN locus on chromosome 4 (distal long arm) or chromosome 2 (middle of long arm); (III) Gc factor on chromosome 4 or 19\2-20; (IV) Hageman blood clotting factor on the short arm of chromsome 6; (V) Haptoglobin alpha chain locus on chromosome 16; (VI) thymidine kinase locus on a chromosome 17 or 18.
In addition, there are some as yet inconclusive data supporting a possible association of the erythrocyte acid phosphatase and chromosome 2; triosephosphate isomerase and the short arm of chromosome 5; chromosome 18 and immunoglobulin A production; chromosome 21 and the Lewis red cell antigen (a). It is emphasized that nearly all of these assignments must be considered tentative.
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3.
Probably three further deletion syndromes could now be recognized clinically: (I) The partial deletion of the short arm of chromosome 18 (18p-), (II) patients with a ring-D(? 14) chromosome, and (III) patients with a partial deletion of the long arm of chromosome 13.
Zusammenfassung
Die Arbeit gibt eine Übersicht über folgende drei Bereiche der Cytogenetik des Menschen:
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1.
Untersuchungen von \:uber 10 000 unausgelesenen lebenden Neugeborenen aus vier verschiedenen Serien ergeben eine H\:aufigkeit chromosomaler Anomalien von etwa 1:200. Etwa 50% dieser Anomalien sind struktureller Natur; Anomalien der Geschlechtschromosomen und der Autosomen sind etwa gleich h\:aufig; etwa die H\:alfte der S\:auglinge mit einer Chromosomenanomalie ist klinisch unauff\:allig. Die h\:aufigsten numerischen Anomalien sind der XXY- und der XYY-Karyotyp, und die h\:aufigste Strukturanomalie ist die Translokation DqDq zwischen zwei Chromosomen der D-Gruppe.
Eine Studie (Lubs u. Ruddle) der kleinen Varianten des normalen Karyotyps ergibt folgende Häufigkeitsziffern: A-Gruppe 1,1%, B-Gruppe 0,04%, C-Gruppe 0,16%, D-Gruppe 16,9%, E-Gruppe 4,2%, F-Gruppe 0,08%, G-Gruppe 6,2%, Y-Chromosom 5,6%.
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2.
Verschiedene Untersuchungen \:uber die Zuordnung von Genen auf Autosomen des Menschen werden zusammengefa\sBt. Zur Zeit kann die Lokalisation folgender Gene auf einem bestimmten Autosom angenommen werden: I. Duffy-blutgruppe und angeborene zonul\:are pulverisierende Katarakt nahe dem Centromer auf dem proximalen langen Arm von Chromosom 1; II. der MN-Locus auf Chromosom 4 (distaler langer Arm) oder Chromosom 2 (mittlerer Abschnitt des langen Armes); III. Gc-Faktor auf Chromosom 4 oder 19\2-20; IV. Hageman-Faktor auf dem kurzen Arm von Chromosom 6; V. Locus f\:ur Haptoglobin-\ga-Kette auf Chromosom 16; VI. Thymidinkinase auf Chromosom 17 oder 18.
Außerdem gibt es noch unbestätigte Befunde über eine mögliche Assoziation von saurer Erythrocytenphosphatase und Chromosom 2, Triosephosphatisomerase und Chromosom 5, Chromosom 18 und Immunglobulin A-Produktion, Chromosom 21 und Lewis-Blutzellenantigen. Fast alle diese Zuordnungen sind mit mehr oder minder großer Zurückhaltung zu betrachten.
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3.
Vermutlich k\:onnen drei weitere Deletionssyndrome klinisch abgegrenzt werden: 1. Die partielle Deletion des kurzen Armes von Chromosom 18 (18p-); 2. Patienten mit einem Ring-D(? 14)-Chromosom und 3. Patienten mit einer partiellen Deletion des langen Armes von Chromosom 13.
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This solicited article is based on a presentation made at the 11. Tagung der Gesellschaft für Anthropologie und Humangenetik at Mainz, October 7, 1969. The survey of literature pertaining to this review was concluded in November 1969. The author is supported in part by grants from the Deutsche Forschungsgemeinschaft and the Bundesministerium für Wissenschaft und Bildung.
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Passarge, E. Population cytogenetics assignment of gene loci to autosomes, karyotype-phenotype correlations. Humangenetik 9, 1–15 (1970). https://doi.org/10.1007/BF00696007
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DOI: https://doi.org/10.1007/BF00696007