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Partial monosomies 18

Review of cytogenetical and phenotypical variants

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Summary

This paper contains a survey of clinical and chromosome data of about 170 patients with partial monosomies 18 (18p-; 18q-; 18r). Cases with karyotype (18q-) show a very distinct malformation syndrome. The symptoms of (18r) cases are in-between those of (18p-) and (18q-).

Zusammenfassung

Diese Arbeit gibt eine Übersicht über klinische Daten und Chromosomenbefunde bei ungefähr 170 Patienten mit partieller Trisomie (18p-; 18q-; 18r). Fälle mit dem Karyotyp (18q-) zeigen das charakteristischste Mißbildungs-Syndrom. Die Symptome von (18r)-Patienten nehmen eine Mittelstellung zwischen solchen mit 18p- und 18q- ein.

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  1. Department of Pathology, Minsk Medical Institute, Minsk, USSR

    I. W. Lurie & G. I. Lazjuk

  2. Laboratory of Medical Genetics, Minsk Medical Institute, Minsk, USSR

    G. I. Lazjuk

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  1. I. W. Lurie
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Lurie, I.W., Lazjuk, G.I. Partial monosomies 18. Hum Genet 15, 203–222 (1972). https://doi.org/10.1007/BF00702354

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