Skip to main content
SpringerLink
Log in

Cat Eye-Syndrom

Klinische und cytogenetische Differentialdiagnose

Cat-Eye Syndrome

Clinical and cytogentical differentialdiagnosis

  • Übersichtsartikel
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal.

Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatids demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the heterochromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained.

Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

Zusammenfassung

Wir berichten über ein 5 1/2jähriges Mädchen, deren klinische Symptomatik die Diagnose eines Cat eye-Syndroms gestattet. Die führenden Leitsymptome sind: Analstenose, präauriculäre Anhängsel und Fisteln, iridale Kolobome, gedoppelte Ureterbecken mit Ureterfissus beidseits, vesico-urethraler Reflux rechts und normale geistige Entwicklung. Alkalische Leukocytenphosphatase im Normbereich.

Die Chromosomenanalyse zeigte bei sonst unauffäulligem Karyotyp ein überzähliges submetazentrisches Chromosom, das von der Größe her kleiner als die Chromosomen der G-Gruppe war und Satelliten auf dem kurzen und langen Arm aufwies. Autoradiographische Untersuchungen zeigten eine späte DNS-Replikation dieses Chromosoms. Die Giemsa-Banden-Technik führte zur intensiven Bänderung der Chromatiden mit ungefärbten Satellitenregionen. Mit der Fluorescenzfärbung ließ sich eine intensive punktförmige Fluorescenz der Satellitenregionen nachweisen. Die heterochromatischen Chromatiden zeigten eine homogene Fluorescenz. Auch die C-Banden-Technik führte zur homogenen Anfärbung der Chromatiden unter Ausschluß der Satellitenregionen. Dagegen führte die Giemsa-11-Technik zur deutlichen Kontinuitätsunterbrechung heterochromatischen Materials zwischen Zentromerregion und dem distalen langen Arm. Ebenfalls blieben hier die Satellitenregionen ungefärbt.

Trotz Anwendung aller modernen cytogenetischen Untersuchungsmethoden gelang es nicht, die Herkunft dieses überzähligen Marker-Chromosoms zu identifizieren.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Literatur

  • Abbo, G., Zellweger, H.: The syndrome of the metacentric microchromosome. Helv. paediat. Acta 25, 83–94 (1970)

    Google Scholar 

  • Armendares, S., Buentello, L., Cuevas-Sosa, A., Cantú-Garza, J. M.: Familial extra centric bisatellited chromosome. Cytogenetics 8, 177–186 (1969)

    Google Scholar 

  • Bass, H. N., Crandall, B. F., Sparker, R. S.: Probably trisomy 22 identified by fluorescent and trypsin-Giemsa banding. Ann. Génét. 16, 189–192 (1973)

    Google Scholar 

  • Beyer, P., Ruch, J.-V., Rumpler, Y., Girard, J.: Observation d'un enfant débile mental et polymalformé dont le caryotype montre la présence d'un petit extra-chromosome médiocentrique. Pédiatrie 23, 439–442 (1968)

    Google Scholar 

  • Blank, C. E., Lord, P. M., Casey, M. D., Laurance, B. M.: Chromosome mosaicism in a mongol born to a young mother. Cytogenetics 2, 76–84 (1963)

    Google Scholar 

  • Bobrow, M., Madan, K., Pearson, P. L.: Staining of some specific regions of human chromosomes, particularly the secondary constrictions of No. 9. Nature (Lond.) New Biol. 238, 122–124 (1972)

    Google Scholar 

  • Borgaonkar, D. S., McKusick, V. A. M., Farber, P. A.: An inherited small extra chromosome: a mother with 46,XX,t(17;22)(p1;q1) and a son with 47,XY,+der(22) mat. J. med. Genet. 10, 379–384 (1973)

    Google Scholar 

  • Borgaonkar, D. S., Schimke, R. N., Thomas, G. H.: Report of five unrelated patients with a small, metacentric, extra chromosome or fragment. J. Génét. hum. 19, 207–222 (1971)

    Google Scholar 

  • Borges, W. H., Wald, N.: A diminutive satellited chromosome in a father and in one of the two true hermaphrodite progeny. J. Pediat. 63, 474–475 (1963)

    Google Scholar 

  • Bühler, E. M., Mehes, K., Müller, H., Stalder, G. R.: Cat-eye syndrome, a partial trisomy 22. Humangenetik 15, 150–162 (1972)

    Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C., Modest, E. M.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma (Berl.) 30, 215–227 (1970)

    Google Scholar 

  • Crandall, B. F., Carrel, R. E., Spakes, R. S.: Chromosome findings in 700 children referred to a psychiatric clinic. J. Pediat. 80, 62–68 (1972)

    Google Scholar 

  • Curcio, S.: Malformazione del petto e della vagina associata ad anomalia cromosomica (47, XX,?G+). Arch. Ostet. Ginec. 72, 533–539 (1967)

    Google Scholar 

  • Dallapicolla, B.: Dermatoglyphics and chromosomes in cat-eye syndrome. Brit. med. J. 3, 767–768 (1971)

    Google Scholar 

  • Darby, C. W., Hughes, D. T.: Dermatoglyphics and chromosomes in cat-eye syndrome. Brit. med. J. 3, 47–48 (1971)

    Google Scholar 

  • Ellis, J. R., Marshall, R., Penrose, L. S.: An aberrant small acrocentric chromosome. Ann. hum. Genet. 26, 77–83 (1962)

    Google Scholar 

  • Filippi, G.: The syndrome polydactyly, imperforate anus and vertebral anomalies. Birth Defects, Original Article Series VIII 2, 88–94 (1972)

    Google Scholar 

  • Finley, W. H., Finley, S. C., Monsky, D.: Case report: an extra small metacentric chromosome in association with multiple congenital abnormalities. J. med. Genet. 8, 381–383 (1971)

    Google Scholar 

  • Fraccaro, M., Hulten, M., Jayakar, S. D., Lindsjö, A., Lindsten, J., Tiepolo, L.: Additional G-like chromosome in a malformed boy. J. med. Genet. 8, 244–249 (1971)

    Google Scholar 

  • Fraccaro, M., Lindsten, J.: Internationaler Kurs für menschliche Kulturen und Zytologie, Basel 1960

  • Franklin, R. A., Parslow, M. I.: The cat-eye-syndrome. Review and two further cases occuring in female siblings with normal chromosomes. Acta paediat. scand. 61, 581–586 (1972)

    Google Scholar 

  • Freedom, R. M., Gerald, P. S.: Congenital cardiac disease and the “Cat-Eye” syndrome. Amer. J. Dis. Child. 126, 16–18 (1973)

    Google Scholar 

  • Friedrich, U., Nielsen, J.: Chromosome studies in 5049 consecutive newborn children. Clin. Genet. 4, 333–343 (1973)

    Google Scholar 

  • Fryns, J. P., Eggermont, E., Verresen, H., van den Berghe, H.: A newborn with the cat-eye syndrome. Humangenetik 15, 242–248 (1972)

    Google Scholar 

  • Fuhrmann, W.: A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? Lancet 1968 II, 918–919

  • Fuhrmann, W., Rieger, A., Vogel, F.: Zwei Beobachtungen zur Genetik der Atresia ani. Arch. Kinderheilk. 158, 264–270 (1958)

    Google Scholar 

  • Gerald, P. S., Davis, C., Say, B. M., Wilkins, J. L.: A novel chromosomal basis for imperforate anus (The Cat's eye syndrome). Pediat. Res. 2, 297 (1968)

    Google Scholar 

  • Gerald, P. S., Davis, C., Say, B. M., Wilkins, J. L.: Syndromal associations of imperforate anus: the cat eye syndrome. Birth Defects. Original Article Series, Vol. VIII, No. 2, 79–84 (1972)

    Google Scholar 

  • Gerald, P. S., Walzer, S.: Chromosome studies of normal newborn infants. Human population cytogenetics (ed. P. A. Jacobs), pp. 143–151. Edinburgh 1970

  • Ginsberg, J., Dignan, P., Soukup, S.: Ocular abnormality associated with extra small autosome. Amer. J. Ophthal. 65, 740–746 (1968)

    Google Scholar 

  • Gustavson, K.-H., Hitrec, V., Santesson, B.: Three non-mongoloid patients of similar phenotype with an extra G-like chromosome. Clin. Genet. 3, 135–146 (1972)

    Google Scholar 

  • Haab, O.: Beiträge zu den angeborenen Fehlern des Auges. Albrecht v. Graefes Arch. Ophthal. 24, 257–281 (1878)

    Google Scholar 

  • Hoehn, H., Reinwein, H., Engel, W.: Genetic studies on a minute centric fragment transmitted through three generations. Cytogenetics 9, 186–198 (1970)

    Google Scholar 

  • Holt, M., Oram, S.: Familial heart disease with skeletal malformation. Brit. Heart J. 22, 236–242 (1960)

    Google Scholar 

  • Hsu, L. Y. F., Shapiro, L. R., Gertner, M., Lieber, E., Hirschhorn, K.: Trisomy 22: a clinical entity. J. Pediat. 79, 12–19 (1971)

    Google Scholar 

  • Ishmael, J., Laurence, K. M.: A probable case of incomplete trisomy of a chromosome of the 13–15 group. J. med. Genet. 2, 136–141 (1965)

    Google Scholar 

  • Johnson, L. D., Harris, R. C., Henderson, A. S.: Ribosomal DNA sites in a metacentric chromosome fragment. Humangenetik 21, 217–219 (1974)

    Google Scholar 

  • Kaufmann, R. L., Quinton, B., Ternberg, J. L.: Imperforate anus, vertebral anomalies and preaxial limb abnormalities. Birth Defects, Original Article Series VIII, No. 2, 88–94 (1972)

    Google Scholar 

  • Krüger, E., Witkowski, R., Piede, U.: Partielle Trisomie D1 — eine seltene Chromosomenanomalie. Humangenetik 8, 181–188 (1968)

    Google Scholar 

  • Mikkelsen, M., Dyggve, H.: (6;15) translocation with loss of chromosome material in the patient and various chromosome aberrations in family members. Humangenetik 18, 195–202 (1973)

    Google Scholar 

  • Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparations of leucocytes cultured from human peripheral blood. Exp. Cell Res. 20, 613–616 (1960)

    Google Scholar 

  • Mukerjee, D., Burdette, W. J.: A familial minute isochromosome. Amer. J. hum. Genet. 18, 62–69 (1969)

    Google Scholar 

  • Neu, R. L., Assemany, S. R., Gardner, L. I.: “Cat eye” syndrome with normal chromosomes. Lancet 1970 I, 949

  • Nielsen, J., Hreidarsson, A. B.: Father and daughter with presumptive isochromosome satellites-short arms D or G. Humangenetik 19, 271–274 (1973)

    Google Scholar 

  • Nielsen, J., Tsuboi, T., Friedrich, U., Mikkelsen, M., Lund, B., Steinicke, O.: Additional small acrocentric chromosome: two cases. J. ment. Defic. Res. 13, 106–122 (1969)

    Google Scholar 

  • Noel, B., Quack, B.: Petit métacentrique surnuméraire chez un polymalformé. J. Génét. hum. 18, 45–56 (1970)

    Google Scholar 

  • Palmer, C. G., Conneally, P. M., Christian, J.: Translocations of D chromosomes in two families: t(13q14q) and t(13q14q)+(13p14p). J. med. Genet. 6, 166–173 (1969)

    Google Scholar 

  • Petit, P.: Identifying the extra chromosome in “cat eye” syndrome with Q, G and C technique. Symposium on “karyotype-phenotype”, Pavia, 10.–11. September 1973: In: Bulletin of the European Society of Human Genetics 70–73 (1973)

  • Pfeiffer, R. A., Diekmann, L., Buchner, T.: Familial occurence of a small metacentric extra chromosome with satellites on both ends. Ann. Génét. 10, 124–130 (1967)

    Google Scholar 

  • Pfeiffer, R. A., Heimann, K., Heiming, E.: Extra chromosome in “cat eye” syndrome. Lancet 1970 II, 97

  • Quan, L., Smith, D. W.: The VATER association: vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia. Birth Defects, Original Article series VIII, No. 2, 75–78 (1972)

    Google Scholar 

  • Ricci, N., Ventimiglia, B., Preto, G.: Transmission d'un petit chromosome surnumeraire dans une familie avec deux cas de trisomie 21. Ann. Génét. 11, 114–116 (1968)

    Google Scholar 

  • Rohde, R. A.: A masculinizing syndrome associated with a doubly-satellited extra chromosome. J. med. Genet. 2, 243–245 (1965)

    Google Scholar 

  • Say, B.: “Cat eye” syndrome with normal chromosomes. Lancet 1970 II, 97–98

    Google Scholar 

  • Say, B., Balci, S., Pirnar, T., Tuncbilek, E.: A new syndrome of dysmorphogenesis: imperforate-anus associated with poly-oligodactyly and skeletal (mainly vertebral) anomalies. Acta paediat. scand. 60, 197–202 (1971)

    Google Scholar 

  • Say, B., Gerald, P. S.: A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? Lancet 1968 II, 688

  • Schachenmann, G., Schmid, W., Fraccaro, M., Mannini, A., Tiepolo, L., Perona, G. P., Sartori, E.: Chromosomes in coloboma and anal atresia. Lancet 1965 II, 290

  • Schmid, W.: DNA replication patterns of human chromosomes. Cytogenetics 2, 175–193 (1963)

    Google Scholar 

  • Schmid, W.: Pericentric inversions. J. Génét. hum. 16, 89–96 (1967)

    Google Scholar 

  • Silver, W., Steier, M., Schwartz, O., Zeicher, M. B.: The Holt-Oram syndrome with previously undescribed associated anomalies. Amer. J. Dis. Child. 124, 911–914 (1972)

    Google Scholar 

  • Smith, D. W.: Recognizable patterns of human malformations. In: Series major problems in clinical pediatrics, Vol. VII. Philadelphia-London-Toronto: Saunders 1970

    Google Scholar 

  • Smith, K. D., Steinberger, E., Steinberger, A., Perloff, W. H.: A familial centric chromosome fragment. Cytogenetics 4, 219–226 (1965)

    Google Scholar 

  • Soudek, D., McCreary, B. D., Laraya, P., Dill, F. J.: Two kinships with accessory bisatellited chromosomes. Ann. Génét. 16, 101–107 (1973)

    Google Scholar 

  • Sumner, A. T.: A simple technique for demonstrating centromeric heterochromatin. Exp. Cell Res. 75, 304–305 (1972)

    Google Scholar 

  • Taft, P. D., Dodge, P. R., Atkins, L.: Mental retardation and multiple congenital anomalies. Amer. J. Dis. Child. 109, 554–557 (1965)

    Google Scholar 

  • Tangheroni, W., Cao, A., Furbetta, M.: Multiple anomalies associated with an extra small metacentric chromosome: modified Giemsa stain results. Humangenetik 18, 291–295 (1973)

    Google Scholar 

  • Thomas, C., Cordier, J., Gilgenkrantz, S., Reny, A., Raspiller, A.: Un syndrome rare atteinte colobomateuse du globe oculaire, atrésia anale, anomalies congenitales multiples et présence d'un chromosome surnuméraire. Ann. Oculist. (Paris) 202, 1021–1031 (1969)

    Google Scholar 

  • Tolksdorf, M., Wiedemann, H. R., Hansen, H. G., Lehmann, W.: Pätau-Syndrom mit Trisomie D1 und D/D-Translokation. Med. Welt (Stuttg.) 41, 2304–2307 (1965)

    Google Scholar 

  • Tünte, W.: A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? Lancet 1968 II, 1081–1082

  • Walzer, S., Breau, G., Gerald, P. S.: A chromosome survey of 2400 normal newborn infants. J. Pediat. 74, 438–448 (1969)

    Google Scholar 

  • Weber, F. M., Dooley, R. R., Sparkes, R. S.: Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosom (47,XX,mar+): report of a case. J. Pediat. 76, 594–597 (1970)

    Google Scholar 

  • Zellweger, H., Mikamo, K., Abbo, G.: Two cases of multiple malformations with an autosomal chromosomal aberration — partial trisomy D? Helv. paediat. Acta 17, 290–300 (1962)

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Universitäts-Kinderklinik Kiel, Kiel, Deutschland

    J. Kunze, M. Tolksdorf & H.-R. Wiedemann

Authors
  1. J. Kunze
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. Tolksdorf
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. H.-R. Wiedemann
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Die cytogenetischen Untersuchungen wurden mit Hilfe der Deutschen Forschungsgemeinschaft durchgeführt.

Die Ergebnisse wurden auf der 71. Tagung der Deutschen Gesellschaft für Kinderheilkunde, 9.-11. 9. 1974 in Hamburg, vorgetragen.

Herrn Professor Wiedemann zum 60. Geburtstag gewidmet.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kunze, J., Tolksdorf, M. & Wiedemann, HR. Cat Eye-Syndrom. Hum Genet 26, 271–289 (1975). https://doi.org/10.1007/BF00285379

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00285379

Search

Navigation