Cat-eye syndrome, a partial trisomy 22

Erica M. Bühler, K. Méhes, Hansjakob Müller, Gerhard R. Stalder

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)150-162
Number of pages13
JournalHuman Genetics
Volume15
Issue number2
DOIs
Publication statusPublished - Jun 1972

Fingerprint

Chromosomes, Human, Pair 22
Trisomy
Chromosomes
Nuclear Family
Fluorescence
Chromosomes, Human, 21-22 and Y
Mothers
Monosomy
Chromosomes, Human, Pair 1
Karyotype
Phenotype
Schmid-Fraccaro syndrome
Trisomy Chromosome 22

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Bühler, E. M., Méhes, K., Müller, H., & Stalder, G. R. (1972). Cat-eye syndrome, a partial trisomy 22. Human Genetics, 15(2), 150-162. https://doi.org/10.1007/BF00295742

Cat-eye syndrome, a partial trisomy 22. / Bühler, Erica M.; Méhes, K.; Müller, Hansjakob; Stalder, Gerhard R.

In: Human Genetics, Vol. 15, No. 2, 06.1972, p. 150-162.

Research output: Contribution to journalArticle

Bühler, EM, Méhes, K, Müller, H & Stalder, GR 1972, 'Cat-eye syndrome, a partial trisomy 22', Human Genetics, vol. 15, no. 2, pp. 150-162. https://doi.org/10.1007/BF00295742
Bühler, Erica M. ; Méhes, K. ; Müller, Hansjakob ; Stalder, Gerhard R. / Cat-eye syndrome, a partial trisomy 22. In: Human Genetics. 1972 ; Vol. 15, No. 2. pp. 150-162.
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