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Defizienz der kurzen Arme der Chromosomen der B-Gruppe (4p—; 5p—)

Untersuchungen an 6 Patienten

Deficiency of the short arms of the chromosomes of the B-group (4p—;5p—)

A report of 6 patients

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Abstract

This is a report of 6 patients (10 days, 7 weeks, 23/4, 3,5 and 81/2 years old) with partial deletion of the short arm of the chromosomes 4 and 5, 4p— and Cri du chat (5p—)-syndrome. This deficiency varied interindividually, and was observed to be in the range of 20–80% of the length of the short arm of the deleted chromosome. The diagnosis of Cri du chat (5 patients) and of 4p— syndrome (1 patient) was based on various clinical observations, dermatoglyphic pecularities, sound spectrograms, and autoradiographic studies.

Examination of genetic markers revealed no irregular inheritance, including the C′3 (β 1C) complement which had not been examined previously in the Cri du chat and the 4p— syndrome.

Zusammenfassung

Bericht über 6 Patienten im Alter von 10 Tagen, 7 Wochen, 23/4, 3, 5 und 81/2 Jahren mit einer partiellen Deletion der kurzen Arme eines Chromosoms der B-Gruppe (Bp-). Diese Defizienz variierte interindividuell zwischen ca. 20–80% der Länge des kurzen Armes des betroffenen Chromosoms. Auf Grund unterschiedlicher klinischer, daktyloskopischer, schallanalytischer Befunde und autoradiographischer Studien wurden 5 Patienten als Cri du chat-Syndrom und 1 Patient als 4p—Syndrom diagnostiziert und die Unterschiede beider Krankheitsbilder diskutiert.

Die Untersuchung von genetischen Markern ergab keine irreguläre Vererbung, einschließlich des beim Cri du chat-Syndrom und beim 4p—Syndrom bisher nicht untersuchten C′3 (β 1C)-Komplements.

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Authors and Affiliations

  1. Institut für Humangenetik der Universität Hamburg, Hamburg, Germany

    H. C. Altrogge, L. Hirth & H. W. Goedde

  2. Abteilung Akustik der Physikalisch-Technischen Bundesanstalt Braunschweig, Brauschweig, Germany

    H. -J. Schroeder

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  1. H. C. Altrogge
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  2. L. Hirth
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  3. H. W. Goedde
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  4. H. -J. Schroeder
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Herrn Professor Dr. K.-H. Schäfer zum 60. Geburtstag gewidmet.

Wesentliche Teile (cytogenetische und klinische Befunde) der vorliegenden Arbeit wurden von Herrn H. C. Altrogge als Dissertation dem Fachbereich Medizin der Universität Hamburg vorgelegt.

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Altrogge, H.C., Hirth, L., Goedde, H.W. et al. Defizienz der kurzen Arme der Chromosomen der B-Gruppe (4p—; 5p—). Z. Kinder-Heilk. 110, 218–247 (1971). https://doi.org/10.1007/BF00440387

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