, Volume 15, Issue 2, pp 150–162 | Cite as

Cat-eye syndrome, a partial trisomy 22

  • Erica M. Bühler
  • Károly Méhes
  • Hansjakob Müller
  • Gerhard R. Stalder
Original Investigations


A family is presented in which a phenotypically normal mother and her healthy daughter both had abnormal children with a small supernumerary chromosome. Both had clinical symptoms suggestive of cat-eye syndrome. In both women 1 G-chromosome was found to be replaced by a small submetacentric satellited chromosome. Its fluorescence pattern was compatible with that of a chromosome 22, and so was the fluorescence pattern of the supernumerary chromosome in one of the phenotypically abnormal children. Since complete monosomy G in addition to partial autosomal trisomy would not be compatible with clinical “normality” the respective karyotypes must be interpreted as a small deletion of a chromosome 22 in the healthy mother and daughter and a partial trisomy 22 in their abnormal children. Therefore it can be concluded that a deletion of a chromosome 22 is compatible with a normal phenotype and that the cat-eye syndrome results, at least in this family, from a partial trisomy 22.


Internal Medicine Clinical Symptom Metabolic Disease Normal Phenotype Small Deletion 
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Es wird über eine Familie berichtet, in der eine phänotypisch normale Mutter und ihre gesunde Tochter je ein abnormes Kind mit einem kleinen überzähligen Chromosom zur Welt gebracht hatten. Die Kinder hatten klinische Zeichen des Cat eye-Syndroms. Im Chromosomensatz beider Frauen war 1 G-Chromosom durch ein kleines submetazentrisches, satellitentragendes Chromosom ersetzt, dessen Fluorescenzumuster dem eines Chromosoms 22 entsprechen könnte. Das gleiche Muster wurde in dem überzähligen Chromosom bei einem der Kinder gefunden. Da eine totale G-Monosomie zusätzlich zu einer autosomalen Trisomie eines anderen Chromosoms nicht vereinbar ist mit vollkommener klinischer Unauffälligkeit, muß die Chromosomenanomalie der gesunden Mutter und Tochter als kleine Deletion 22 angesehen werden und die der abnormalen Kinder infolgedessen als partielle Trisomie 22. Aus diesen Befunden kann geschlossen werden, daß eine Deletion des Chromosoms 22 mit einem normalen Phänotyp vereinbar ist und daß, zumindest in dieser Familie, das Cat eye-Syndrom die Folge einer partiellen Trisomie 22 ist.


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Copyright information

© Springer-Verlag 1972

Authors and Affiliations

  • Erica M. Bühler
    • 1
    • 2
  • Károly Méhes
    • 1
    • 2
  • Hansjakob Müller
    • 1
    • 2
  • Gerhard R. Stalder
    • 1
    • 2
  1. 1.Genetisches InstitutUniversitäts-KinderklinikBaselSwitzerland
  2. 2.Department of PediatricsUniversity Medical SchoolPécsHungary

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