Abstract
A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described. The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.
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- Cervenka J., Hansen C. A., Franciosi R. A., Gorlin R. J. Trisomy 22 with 'cat eye' anomaly. J Med Genet. 1977 Aug;14(4):288–290. doi: 10.1136/jmg.14.4.288. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Goodpasture C., Bloom S. E. Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining. Chromosoma. 1975 Nov 20;53(1):37–50. doi: 10.1007/BF00329389. [DOI] [PubMed] [Google Scholar]
- Guanti G. The aetiology of the cat eye syndrome reconsidered. J Med Genet. 1981 Apr;18(2):108–118. doi: 10.1136/jmg.18.2.108. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Najafzadeh T. M., Dumars K. W. Duplication of distal 11q and 22p occurrence in two unrelated families. Am J Med Genet. 1981;8(3):341–347. doi: 10.1002/ajmg.1320080313. [DOI] [PubMed] [Google Scholar]
- Petit P., Godart S., Fryns J. P. Silver staining of the supernumerary chromosome in the cat-eye syndrome. Ann Genet. 1980;23(2):114–116. [PubMed] [Google Scholar]
- SCHACHENMANN G., SCHMID W., FRACCARO M., MANNINI A., TIEPOLO L., PERONA G. P., SARTORI E. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA. Lancet. 1965 Aug 7;2(7406):290–290. doi: 10.1016/s0140-6736(65)92415-3. [DOI] [PubMed] [Google Scholar]
- Schinzel A., Schmid W., Fraccaro M., Tiepolo L., Zuffardi O., Opitz J. M., Lindsten J., Zetterqvist P., Enell H., Baccichetti C. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet. 1981;57(2):148–158. doi: 10.1007/BF00282012. [DOI] [PubMed] [Google Scholar]
- Van Dyke D. L., Weiss L., Logan M., Pai G. S. The origin and behavior of two isodicentric bisatellited chromosomes. Am J Hum Genet. 1977 May;29(3):294–300. [PMC free article] [PubMed] [Google Scholar]