Summary
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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
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
Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilagenous exostoses. Eur J Pediatr 133:163–166
Bühler EM (1982) Editorial comment: Langer-Giedion syndrome and 8q- deletion. Am J Med Genet 11:359–360
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
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
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
Giedion A (1966) Das Tricho-Rhino-Phalangeale Syndrom. Helv Paediatr Acta 21:475–482
Giedion A (1969) Die Peripheren Dysostosen (PD) — ein Sammelbegriff. Fortschr Röntgenstr 110:507–524
Gorlin RJ, Cohen MM, Wolfson J (1969) TRP syndrome. Am J Dis Child 118:595–599
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
Hall JG (1979) Tricho-rhino-phalangeal syndrome, type II. In: Bergsma (ed) Birth Defects Compendium. The National Foundation, March of Dimes, NY
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
Murachi S, Nogami H, Oki T, Ogino T (1981) Familial tricho-rhino-phalangeal syndrome type II. Clin Genet 19:149–155
Oorthuys JWE, Beemer FA (1979) The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome, type II). Eur J Pediatr 132:55–59
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
Stoltzfus E, Ladda RL, Lloyd-Still J (1977) Langer-Giedion syndrome type II, TRP. J Pediatr 91:277–280
Taysi K, Noetzel MJ, Strauss AW (1977) Presumptive long arm deletion of chromosome 8: a new syndrome? Hum Genet 51:49–53
Zabel BU, Baumann VA (1982) Langer-Giedion syndrome with interstitial 8q- deletion. Am J Med Genet 11:353–358
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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). https://doi.org/10.1007/BF00333515
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00333515