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Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23

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Two patients with typical Langer-Giedion or trichorhino-phalangeal type II syndrome are reported. One had an apparently normal karyotype. The second had an intercalary del 8q23. Attention is drawn to the severe bone defects seen in the latter and observations from the literature are discussed. The critical segment is assigned to band 8q23. The syndrome may result in a number of cases from a visible deletion, and in other instances from a more conventional gene mutation, although the molecular mechanism is uncertain.

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  • Beighle C, Karp LE, Hanson JW, Hall JG, Hoehn H (1977) Small structural changes of chromosome 8. Two cases with evidence for deletion. Hum Genet 38:113–121

    Google Scholar 

  • Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilagenous exostoses. Eur J Pediatr 133:163–166

    Google Scholar 

  • Bühler EM (1982) Editorial comment: Langer-Giedion syndrome and 8q- deletion. Am J Med Genet 11:359–360

    Google Scholar 

  • Dallapiccola B, Santoro L, Trabace S, Ramenghi M, Matroiacovo P, Gandin E (1977) Deletion of the long arm of chromosome 8 resulting from de novo translocation t(4;8)(q13;q213). Hum Genet 38:125–130

    Google Scholar 

  • Dutrillaux B, Couturier J (1981) In: Masson (ed) La Pratique de l'Analyse Chromosomique. Paris, pp 86

  • Fryns JP, Logghe N, Van Eygen M, Van den Berghe H (1979) Interstitial deletion of the long arm of chromosome 8 karyotype: 46,XY,del(8)(q21). Hum Genet 48:127–130

    Google Scholar 

  • Fryns JP, Logghe N, Van Eygen M, Van den Berghe H (1981) Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum Genet 58:231–232

    Google Scholar 

  • Giedion A (1966) Das Tricho-Rhino-Phalangeale Syndrom. Helv Paediatr Acta 21:475–482

    Google Scholar 

  • Giedion A (1969) Die Peripheren Dysostosen (PD) — ein Sammelbegriff. Fortschr Röntgenstr 110:507–524

    Google Scholar 

  • Gorlin RJ, Cohen MM, Wolfson J (1969) TRP syndrome. Am J Dis Child 118:595–599

    Google Scholar 

  • Grouchy J de (1981) Towards clinical microcytogenetics: the aniridia and the retinoblastoma stories. VIth International Congress of Human Genetics. Jerusalem, Israel, Sept. 13–18

  • Hall BD, Langer LO, Giedion A, Smith DW, Cohen MM, Beals RK, Brandner M (1974) Langer-Giedion syndrome. Birth Defects: Original Article Series 10:147–164

    Google Scholar 

  • Hall JG (1979) Tricho-rhino-phalangeal syndrome, type II. In: Bergsma (ed) Birth Defects Compendium. The National Foundation, March of Dimes, NY

    Google Scholar 

  • Langer LO (1969) The thoracic-pelvic-phalangeal dystrophy. Clinical Delineation of Birth Defects part IV, Skeletal Dysplasia. Birth Defects: Original Article Series V (4):55–64

    Google Scholar 

  • Murachi S, Nogami H, Oki T, Ogino T (1981) Familial tricho-rhino-phalangeal syndrome type II. Clin Genet 19:149–155

    Google Scholar 

  • Oorthuys JWE, Beemer FA (1979) The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome, type II). Eur J Pediatr 132:55–59

    Google Scholar 

  • Orye E, Craen M (1983) Partial long-arm deletion of chromosome 8 (pter→q13::q22→qter) without Langer-Giedion syndrome. Ann Génét in press

  • Pfeiffer RA (1980) Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8, 46,XY,del 8(q13-22). Clin Genet 18:142–146

    Google Scholar 

  • Stoltzfus E, Ladda RL, Lloyd-Still J (1977) Langer-Giedion syndrome type II, TRP. J Pediatr 91:277–280

    Google Scholar 

  • Taysi K, Noetzel MJ, Strauss AW (1977) Presumptive long arm deletion of chromosome 8: a new syndrome? Hum Genet 51:49–53

    Google Scholar 

  • Zabel BU, Baumann VA (1982) Langer-Giedion syndrome with interstitial 8q- deletion. Am J Med Genet 11:353–358

    Google Scholar 

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Turleau, C., Chavin-Colin, F., de Grouchy, J. et al. Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23. Hum Genet 62, 183–187 (1982).

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