Summary
Two unrelated patients with clinical features of 11p13 deletion syndrome, 3 years old and 3 months old, are reported. The clinical features of the patients included mental retardation, aniridia, nystagmus, blepharophimosis, and genitourinary abnormalities. Both patients were apparently free from Wilms' tumor and gonadoblastoma. Prometaphase banding analyses revealed a 46,XY,del(11)(p 1300p 1500) karyotype in one patient and 46,XX,dir ins(11;2)(p13;q12q23) in the other. Catalase activities in the erythrocytes in the two patients were respectively 65% and 56% of those of normal controls, close to the expected values in hemizygosity of the catalase gene. These findings confirmed a close linkage of the gene for catalase and those for the aniridia-Wilms' tumor or gonadoblastoma complex.
Similar content being viewed by others
References
Beutler E (1975) In: Red cell metabolism. A manual of biochemical methods, 2nd edn. Grune and Stratton Inc, New York, pp 89–90
Beutler E, West C, Blume KG (1976) The removal of leukocytes and platelets from whole blood. J Lab Clin Med 88:328–333
Ferrell RE, Riccardi VM (1981) Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. Cytogenet Cell Genet 31:120–123
Francke U, George DL, Brown MG, Riccardi VM (1981) Gene dose effect: Intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p. Cytogenet Cell Genet 19:197–207
Fryns JP, Beirinx J, Sutter E de, Derluyn J, Francois J, Berghe H van den (1981) Aniridia—Wilms' tumor association and 11p interstitial deletion. Eur J Pediatr 136:91–92
Gödde-Salz E, Behnke H (1981) Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial delection of 11p. Eur J Pediatr 136:93–96
Ikeuchi T, Sasaki M (1979) Accumulation of early mitotic cells in ethidium bromide-treated human lymphocyte cultures. Proc Japan Acad 55:15–18
Ikeuchi T, Tonomura A, Nakajima H, Kawasaki C, Nemoto H (1981) A simple high-resolution chromosome banding technique, and its application to regional mapping ofPGM 1 by exclusion on chromosome Ip (Abstract). Proceeding of VIth International Workshop on Human Gene Mapping, Oslo. Cytogenet Cell Genet (in press)
ISCN (1981) An international system for human cytogenetic nomenclature —high-resolution banding (1981). Cytogenet Cell Genet 31:1–23
Junien C, Turleau C, Grouchy J de, Said R, Rethoré M-O, Tenconi R, Dufier JL (1980) Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia—Wilms' tumor—gonadoblastoma complex. Ann Génét 23:165–168
Riccardi VM, Sujanski E, Smith AC, Francke U (1978) Chromosomal imbalance in the aniridia—Wilms' tumor association: 11p interstitial deletion. Pediatr 61:604–610
Takahara S, Hamilton HB, Neel JV, Kobara TY, Ogura Y, Nishimura ET (1960) Hypocatalasemia: A new genetic carrier state. J Clin Invest 39:610–619
Turleau C, Grouchy J de, Dufier JL, Phuc LH, Schmelck PH, Rappaport R, Nichoul-Fékété C, Diebold N (1981) Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. Hum Genet 57:300–306
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Niikawa, N., Fukushima, Y., Taniguchi, N. et al. Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity. Hum Genet 60, 373–375 (1982). https://doi.org/10.1007/BF00569223
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00569223