Summary
We present here the first familial cases (a mother and son) of dominantly inherited retinoblastoma with a 13q14 deletion [46,XY or XX,del(13)(q14.1q21.2)]. Their esterase D activities in red blood cells were as low as 50% of the normal control and the haplotype of esterase D was a type 1-0 in the mother and a type 2-0 in the son. They had peculiar facies characterized by a high forehead, low and broad nasal root, a short and bulbous nose, a long philtrum, and open mouth with a thin upper lip, and prominent earlobes. Chromosome and esterase D analysis should be performed in patients with retinoblastoma even if retinoblastoma seems to be transmitted through an autosomal dominant inheritance. This family indicates that one of the causes of dominantly inherited retinoblastoma is a chromosome deletion of part of the 13q14 band whether it is detectable by chromosome analysis or not.
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Couturier J, Norichon-Delvallez N, Duttrillaux B (1985) Deletion of band 13q21 is compatible with normal phenotype. Hum Genet 70:87–91
Curry CJR, Magenis RE, Brown M, Lanman JT, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EN, Shapiro LJ (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1010–1015
Hoegerman SF (1979) Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion. Science 205:1035–1036
Ikeuchi T, Sasaki M (1979) Accumulation of early mitotic cells in ethidium bromide-treated human lymphocyte cultures. Proc Jpn Acad 55:15–18
ISCN (1981) An international system for human cytogenetic nomenclature: high-resolution banding (1981). Cytogenet Cell Genet 31:1–23
Michalova K, Kloucek F, Musilova J (1982) Deletion of 13q in two patients with retinoblastoma, one probably due to 13q- mosaicism in the mother. Hum Genet 61:264–266
Motegi T, Kaga M, Yanagawa Y, Kadowaki H, Watanabe K, Inoue A, Komatsu M, Minoda K (1983a) A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q. Hum Genet 64:160–162
Motegi T, Komatsu M, Minoda K (1983b) Is the interstitial deletion of 13q in retinoblastoma patients not transmissible? Hum Genet 64:205
Nishigaki I, Itoh T, Ogasawara N (1983) Quantitative variations in polymorphic types of human red cell esterase D. Ann Hum Genet 47:187–192
Noel B, Quack B, Rethore MO (1976) Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 9:593–602
Riccardi VM, Hittner HM, Francke U, Pippin S, Holmquist GP, Kretzer FL, Ferrell R (1979) Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas. Clin Genet 15:332–345
Rivera H, Turleau C, Grouchy J de, Junien C, Despoisse S, Zucker JM (1981) Retinoblastoma-del (13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dose effect for esterase D. Hum Genet 59:211–214
Sparkes RS, Muller H, Klisak I, Abram JA (1979) Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q. Science 203:1027–1029
Sparkes RS, Murphree AL, Lingua RW, Sparkes MC, Field LL, Funderburk SJ, Benedict WF (1983) Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science 219:971–973
Strong LC, Riccardi VM, Ferrell RE, Sparkes RS (1981) Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science 213:1501–1503
Vogel F (1979) Genetics of retinoblastoma. Hum Genet 52:1–54
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Fukushima, Y., Kuroki, Y., Ito, T. et al. Familial retinoblastoma (mother and son) with 13q14 deletion. Hum Genet 77, 104–107 (1987). https://doi.org/10.1007/BF00272373
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DOI: https://doi.org/10.1007/BF00272373