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The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype

Report of 11 patients and delineation of the clinical picture

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Summary

Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schnid and Fraccaro. All cases had, in addition to a normal karyotype, a small extra G-like chromosome which appeared to be an isochromosome for the juxtacentromeric region (pter→q11) of an acrocentric chromosome. None were mosaics. Clinical findings and further cytogenetic studies in a few cases suggest that these markers probably derive from a No. 22 chromosome.

Characteristic features of the Cat Eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes. Intelligence is usually low-normal, although moderate retardation is also seen. There is great variability in the clinical findings ranging from near normal to lethal malformations. Less frequent, but also characteristic findings are: microphthalmia, microtia with atresia of the external auditory canal, intrahepatic or extrahepatic biliary atresia and malrotation of the gut.

Direct transmission of the marker from one generation to the other was observed in both sexes. In those families, there was considerable variability in the clinical findings between affected family members. Theses cases show that there is a bias of ascertainment for patients who have the more striking malformation, especially those with ocular coloboma and anal atresia, a combination which appears to be present in only a minority of cases. Many mildly affected patients probably remain undetected.

It is proposed that the term Cat Eye syndrome should be applied only to cases with trisomy or tetrasomy of not more than 22pter→q11 and without additional duplication or deletion of another autosomal segment.

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References

  • Abe T, Morita M, Kawai K, Misawa S, Takino T, Hashimoto H, Nakagome Y (1977) Partial tetrasomy 9 (9pter→-9q2101) due to an extra iso-dicentric chromosome. Ann Génét 20:111–114

    Google Scholar 

  • Allderdice, PW, Miller OJ, Miller DA, Breg WR, Gendel E, Zelson C (1971) Familial translocation involving chromosomes 6, 14, and 20, identified by Quinacrine fluorescence. Humangenetik 13:205–209

    Google Scholar 

  • Al Saadi A, Yang SS, Singla P (1977) Partial trisomy of chromosomes 22 and 16 in a microphathalmic infant. Am J Hum Genet 29: 18A

  • Balci S, Halicioglu C, Say B, Taysi K (1974) The cat-eye syndrome with unusual skeletal malformations. Acta Paediatr Scand 63:623–626

    Google Scholar 

  • Bannister DL, Engel E (1975) A G-like trisomy with a major 15 proximal component derived from a D/E balanced maternal interchange. J Pediat 86:916–917

    Google Scholar 

  • Beyer P, Ruch JV, Rumpler Y, Girard J (1968) Observation d'un enfant débil mental et polymalformé dont le caryotype montre la présence d'un extrachromosome médiocentrique. Pédiatrie 33:439–442

    Google Scholar 

  • Borgaonkar DS, McKusick VA, Farber PA (1973) 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

    Google Scholar 

  • Bühler EM, Méhes K, Müller H, Stalder GR (1972) Cat-eye syndrome a partial trisomy 22. Humangenetik 15:150–162

    Google Scholar 

  • Carmi R, Abeliovich D, Bar-Ziv J, Karplus M, Cohen MM (1980) Malformation syndrome associated with small extra chromosome. Am J Med Genet 5:101–107

    Google Scholar 

  • Castel Y, Ribière D, Boucly JY, Toudic L (1976) Trisomie 15q partielle par translocation maternelle t(7;15)(q35;q14). Ann Génét 19: 75–79

    Google Scholar 

  • Coco R, Penchaszadeh VB (1977) Partial trisomy 14q and familial translocation (2;14)(q12;q13). Ann Génét 20:41–44

    Google Scholar 

  • Cohen MM, Ornoy A, Rosemann A, Kohn G (1975) An inherited translocation t(4;15)(p16;q22) leading to two cases of partial trisomy 15. Ann Génét 18:99–103

    Google Scholar 

  • Cory CC, Jamison DL (1974) The cat eye syndrome. Arch Ophthalmol 92:259–262

    Google Scholar 

  • Darby CW, Hughes DT (1971) Dermatoglyphics and chromosomes in cat-eye syndrome. Brit Med J 3:47–48

    Google Scholar 

  • Escobar JI, Yunis JJ (1974) Trisomy for the proximal segment of the long arm of chromosome 13. A new entity? Am J Dis Child 128: 221–222

    Google Scholar 

  • Fawcett WA, McCord WK, Francke U (1975) Trisomy 14q-. Birth Defects. Orig Art Ser XI:223–228

    Google Scholar 

  • Ferrandez A, Schmid W (1971) Potter-Syndrom (Nierenagenesie) mit chromosomaler Aberration beim Patient und Mosaik beim Vater. Helv Pacdiatr Acta 26:210–214

    Google Scholar 

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

    Google Scholar 

  • Fryns JP, Cassiman JJ, Van den Berghe H (1974) Tertiary partial 14 trisomy, 47, XX,+14q-. Humangenetik 24:71–77

    Google Scholar 

  • Fujimoto A, Towner JW, Ebbin AJ, Kahlstrom EJ, Wilson MG (1974) Inherited partial duplication of chromosome No. 15. J Med Genet 11:287–291

    Google Scholar 

  • Garlinger P, McGeary SA, Magenis E (1977) Partial trisomy 22: a recognizable syndrome. Clin Genet 12:9–16

    Google Scholar 

  • Geneix A, Jaffray JY, Malet P, Foulon E, Jalbert P, Crost P (1979) A new case of partial trisomy 15q-. Hum Genet 51:335–338

    Google Scholar 

  • Gerald PS, Davis C, Say B, Wilkins J (1972) Syndromal association of imperforate anus: the cat eye syndrome. Birth Defects, Orig Art Ser XIII:79–84

    Google Scholar 

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

    Google Scholar 

  • Giorgi PI, Tarantino E, Formica A, Dallapiccola B (1979) Trisomia parziale terziaria 14(pter→q21) da traslocazione familiare t(10;14) (p15.2;q21). Acta Med Auxol 11:61–65

    Google Scholar 

  • Giraud F, Mattei JF, Hartung M, Mattei MG (1975) Petit chromosome submétacentrique surnuméraire et syndrome des yeux de chat. Ann Pédiat 22:449–452

    Google Scholar 

  • Kaye CI, Booth CW, Meekr D, Nadler HL (1977) Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy. Cleft Palate J 14:244–248

    Google Scholar 

  • Kovacs G, Mihai C (1979) Tertiary trisomy 14q- due to paternal balanced translocation 46,XY,t(1;14)(q44;q22). Hum Genet 49: 175–178

    Google Scholar 

  • Krmpotic E, Rosnick MR, Zollar ML (1971) Genetic counseling. Secondary nondisjunction in partial trisomy 13. Obstet Gynecol 37: 381–390

    Google Scholar 

  • Kunze J, Tolksdorf M, Wiedemann HR (1975) Cat Eye-Syndrom. Klinische und cytogenetische Differentialdiagnose. Hum Genet 26: 271–289

    Google Scholar 

  • Macintyre NM, Walden DB, Hempel JM (1971) Tertiary trisomy in a human kindred containing a E/G translocation. Am J Hum Genet 23:431–441

    Google Scholar 

  • Macintyre NM, Hempel JM, Walden DB, Miller RC, Greene AE, Coriell LL (1975) A (17;22) translocation, balanced, 46 chromosomes. Repository identification No. GM-119. Cytogenet Cell Genet 14: 80–81

    Google Scholar 

  • Moedjono SJ, Sparkes RS (1979) Partial trisomy of 13 (pter q12) due to 47,XY,+der(13),t(13;22)(q12;q13) mat. Hum Genet 50:241–246

    Google Scholar 

  • Monteleone PL, Monteleone JA, Grzegocki J (1969) An unusual balanced reciprocal translocation in several members of a family. J Med Genet 6:394–398

    Google Scholar 

  • Niermeijer MF, Sachs ES, Johodova M, Tichelaar-Klepper C, Kleijer WJ, Galjaard H (1976) Prenatal diagnosis of genetic disorders. J Med Genet 13:182–194

    Google Scholar 

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

    Google Scholar 

  • Noel B, Ayraud N, Levy M, Cau D (1976a) Le syndrome des yeux de chat. Etude chromosomique et conseil génétique. J Génét Hum 24: 279–291

    Google Scholar 

  • Noel B, Quack B, Rethoré MO (1976b) Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 9:593–602

    Google Scholar 

  • Pena SDJ, Ray M, McAlpine PJ, Ducasse C, Briggs J, Hamerton J (1976) Tertiary trisomy 14: is there a syndrome?. Birth Defects. Orig Art Ser XII:113–118

    Google Scholar 

  • Petit P, Godard S, Fryns JP (1980) Silver staining of the supernumerary chromosome in the cat-eye syndrome. Ann Génét 23:114–116

    Google Scholar 

  • Pfeiffer RA, Heimann K, Heiming E, Schlack H, Maul H (1971) Kolobom and analatresie: Phänotyp einer Chromosomenaberration? Klin Monatsbl Augenheilk 159:357–367

    Google Scholar 

  • Pfeiffer RA, Kessel E (1976) Partial trisomy 15q1. Hum Genet 33:77–83

    Google Scholar 

  • Pierson M, Gilgenkrantz S, Saborio M (1975) Syndrome dit de l'oeil de chat avec nanisme hypophysaire et développement mental normal. Arch Fr Pédiatr 32:835–848

    Google Scholar 

  • Primarosa de Chieri R, Malfatti C, Stanchi F, Albores JM (1974) Cat-eye syndrome: evaluation of the extra chromosome with banding techniques. J Génét Hum 22:101–107

    Google Scholar 

  • Raoul O, Rethoré MO, Dutrillaux B, Michon L, Lejeune J (1975) Trisomie 14q partielle. I. Trisomie 14q partielle par translocation maternelle t(10;14)(p15.1;q22). Ann Génét 18:35–39

    Google Scholar 

  • Reiss JA, Wyandt HF, Magenis RE, Lovrien EW, Hecht F (1972) Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-). J Med Genet 9:280–286

    Google Scholar 

  • Rethoré MO, Dutrillaux B, Lejeune J (1973) Translocation 46,XX, t(15;21)(q13;q22.1) chez la mère de deux enfants atteints de trisomie 15 et de monosomie 21 partielles. Ann Génét 16:271–275

    Google Scholar 

  • Schachenmann G, Schmid W, Fraccaro M, Mannini A, Tiepolo L, Perona GP, Sartori E (1965) Chromosomes in coloboma and anal atresia. Lancet 2:290

    Google Scholar 

  • Schinzel A (1981a) Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13). Hum Genet 56:263–268

    Google Scholar 

  • Schinzel A,(1981b) Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22. Hum Genet 56:269–273

    Google Scholar 

  • Schinzel A, Schmid W, Mürset G (1974) Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm. Report of three cases. Humangenetik 22:287–298

    Google Scholar 

  • Schinzel A, Schmid W, Auf der Maur P, Moser H, Degenhardt KH, Geisler M, Grubisic A (1981) Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of 9 new cases from 6 families. Hum Genet 56:249–262

    Google Scholar 

  • Schmid W (1967) Pericentric inversions. report of two malformation cases suggestive of parental inversion heterozygosity. J Génét Hum 16:89–96

    Google Scholar 

  • Schwanitz G, Grosse KP, Semmelmayer U, Mangold H (1974) Partielle freie Trisomie 13 in einer Familie mit balancierter Translocation (13q-;16q+). Monatsschar Kinderheilk 122:337–342

    Google Scholar 

  • Short EM, Solitare GB, Breg WR (1972) A case of partial 14 trisomy 47,XY,(14q-)+ and a translocation t(9p+;14q-) in mother and brother. J Med Genet 9:367–373

    Google Scholar 

  • Simpson J, Zellweger H (1977) Partial trisomy 14q- and parental translocation of No. 14 chromosome. J Med Genet 14:124–127

    Google Scholar 

  • Surana RB, Conen PE, Braudo M, Keith JD (1974) Familial tertiary trisomy with t(14q-;1+?). Birth Defects. Orig Art Ser X:53–65

    Google Scholar 

  • Toomey KE, Mohandas T, Leisti J, Szalay G, Kaback MM (1977) Further delineation of the supernumerary chromosome in the cat eye syndrome. Clin Genet 12:275–284

    Google Scholar 

  • Tsipouras P, Vekemans M, Rudner M (1979) Tertiary trisomy for the proximal part of the long arm of chromsome 13. Am J Hum Genet 31:113A

    Google Scholar 

  • Turleau C, de Grouchy J, Bocquentin F, Roubin M, Chavin-Colin F (1975) Trisomie 14q partielle. II. Trisomie 14q partielle par translocation maternelle t(12;14)(q24.4;q21). Ann Génét 18:41–44

    Google Scholar 

  • Weber FM, Dooley RR, Sparkes RS (1970) Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX, mar+). Report of a case. J Pediatr 76:594–597

    Google Scholar 

  • Weleber RG, Walknowska J, Peakman D (1977) Cytogenetic investigation of the cat-eye syndrome. Am J Ophthalmol 84:477–486

    Google Scholar 

  • Wisniewski L, Hasold T, Heffelfinger J, Higgins JV (1979) Cytogenetic and clinical studies in five cases of inv dup(15). Hum Genet 50:259–270

    Google Scholar 

  • Young SR, Donovan DM, Greer HA, Burch K, Potter DC (1976) Tertiary trisomy, 47,XX,+14q-, resulting from material balanced translocation, 46,XX,t(14;16)(q11;q24). Hum Genet 33:331–334

    Google Scholar 

  • Zannotti M, del Po A, Forabosco A, Rossi-Giovanardi P (1977) Cromosoma i dic(15q) sopranumerario in un soggetto con ritardo mentale. Acta Med Auxol 9:177–178

    Google Scholar 

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Authors and Affiliations

  1. Institute of Medical Genetics, University of Zürich, Steinwiesstrasse 75, CH-8032, Zürich, Switzerland

    A. Schinzel & W. Schmid

  2. Istituto di Biologia Generale e di Genetica Medica, Università di Pavia, Pavia, Italy

    M. Fraccaro, L. Tiepolo & Orsetta Zuffardi

  3. Shodair Children's Hospital, 840 Helena Avenue, Box 5539, 59601, Helena, MT, USA

    J. M. Opitz

  4. Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden

    J. Lindsten

  5. Department of Pediatrics, Karolinska Hospital, Stockholm, Sweden

    P. Zetterqvist

  6. Department of Pediatrics, Central Hospital, Helsingborg, Sweden

    H. Enell

  7. Servizio di Genetica Medica, Clinica Pediatrica, Università di Padova, Padova, Italy

    C. Baccichetti & R. Tenconi

  8. Division of Medical Genetics, Department of Medicine and Pediatrics, University of Washington Medical School and Children's Orthopedic Hospital, 98195, Seattle, WA, USA

    Roberta A. Pagon

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  1. A. Schinzel
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  3. M. Fraccaro
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  11. R. Tenconi
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  12. Roberta A. Pagon
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Schinzel, A., Schmid, W., Fraccaro, M. et al. The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype. Hum Genet 57, 148–158 (1981). https://doi.org/10.1007/BF00282012

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