Summary
A 17-month-old girl with a partial trisomy of distal 8q derived from her mother, who has a mosaic 8q23.3→q24.13 deletion, was studied. Both showed a relatively mild phenotype of trichorhinophalangeal syndrome I. The karyotype of the proposita was designated as: 46,XX,-8,+der(8),inv ins(8;8)(p23.1;q24.13q23.3)mat. Her phenotype was considered similar to that of her mother despite the trisomies of distal 8q. She seems to be the first example of a partial trisomy of distal 8q derived from a parent with an interstitial deletion of a distal 8q segment and trichorhinophalangeal syndrome I.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Beals RK (1973) Tricho-rhino-phalangeal dysplasia: report of a kindred. J Bone Joint Surg [Am] 55:821–826
Bowen P, Biederman B, Hoo JJ (1985) The, critical segment for the Langer-Giedion syndrome: 8q24.11–q24.12. Ann Génét (Paris) 28:224–227
Brocas H, Bühler EM, Simon P, Malik NJ, Vassart G (1986) Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. Hum Genet 74:178–180
Bühler EM, Malik NJ (1984) The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and II syndromes: are they separate entities? Am J Med Genet 19:113–119
Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133:163–166
Bühler EM, Bühler UK, Beutler C, Fessler R (1987) A final word on the tricho-rhino-phalangeal syndromes. Clin Genet 31:273–275
Fryns JP, Van den Berghe H (1986) 8q24.12 interstitial deletion in trichorhinophalangeal syndrome type I. Hum Genet 74:188–189
Goldblatt J, Smart RD (1986) Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial, deletion of 8q23. Clin Genet 29:434–438
Hamers A, Jongbloet P, Peeters G, Geraedts J (1983) Microcytogenetics of chromosome 8q. Proceedings of the 8th International Chromosome Conference, Lübeck 1983. Allen & Unwin, London p 313
McKusick VA (1972) Hereditary disorders of connective tissue, 4th edn. Mosby, St Louis, Mo
Mücke J, Künzel R (1985) Chromosomale Aberrationen am Chromosom 8 bei Langer-Giedion-Syndrom (TRP-II-Syndrom). Z Klin Med 40:1581–1584
Murachi S, Nogami H, Oki T Ogino T, (1981), Familial tricho-rhinophalangeal syndrome II. Clin Genet 19:149–155
Murdoch JL (1969) Tricho-rhino-phalangeal dysplasia with posible autosomal dominant transmission. Birth Defects 5(2):218–220
Okuno T, Inoue A, Asakura T, Nakao S (1987) Langer-Giedion syndrome with del(8)(q24.13→q24.22). Clin Genet 32:40–45
Schmickel RD (1986) Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 109:231–241
Schwartz S, Beisel JH, Panny SR, Cohen MM (1985) A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. Clin Genet 27:175–182
Shabtai F, Sandowski U, Nissimov R, Klar D, Halbrecht I (1985) Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv(q11.23 →q21.11). Clin Genet 27:600–605
Sugiura Y, Shionoya M, Inoue T, Tsuruta T (1976) Tricho-rhinophalangeal syndrome: report on three unrelated families. Jpn J Hum Genet 21:13–22
Walker AP, Bocian M (1987) Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocation: case reports and review of partial duplication of chromosome 8. Am J Med Genet 27:3–22
Zaletajev DV, Kuleshov NP, Lur'e IV, Marincheva GS (1987) Langer-Giedion syndrome and chromosome 8 long arm deletion. Sov Genet 23:629–633
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Naritomi, K., Hirayama, K. Partial trisomy of distal 8q derived from mother with mosaic 8q23.3→24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum Genet 82, 199–201 (1989). https://doi.org/10.1007/BF00284059
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00284059