Summary
Reexamination with high resolution banding of the first ever published case of Langer-Giedion syndrome with 8q deletion as well as chromosome examination of a second case of this syndrome with different high resolution methods, confirmed our previous assumption of a terminal 8q involvement in the causation of TRP II syndrome.
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Beighle C, Karp LE, Hanson JW, Hall JG, Hoehn H (1977) Small structural changes of chromosome 8. Hum Genet 38:113–121
Bühler EM (1982) Editorial comment: Langer-Giedion syndrome and 8q- deletion. Am J Med Genet 11:359
Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133:163–166
Dallapiccola B, Santoro L, Trabace S, Remenghi M, Mastroiacovo P, Gandini E (1977) Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8)(q13;q213). Hum Genet 38:125–130
Frontali M, Ramenghi M, Trabace S, Dallapiccola B (1982) “Microcytogenetics” and Langer-Giedion syndrome. J Med Genet 19: 390–391
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 (1969) Die periphere Dysostose (PD) — ein Sammelbegriff. Fortschr Geb Röntgenstr Nuklearmed Ergänzungsband 110: 517–524
Gorlin RJ, Pindborg JJ, Cohen MM Jr (1976) Syndromes of the head and neck. 2nd edn. McGraw-Hill Book Co, New York, pp 698–703
Gorlin JG, Červenka J, Bloom BA, Langer LO Jr (1982) Letter to the editor: No chromosome deletion found in prometaphase banding in two cases of Langer-Giedion syndrome. Am J Med Genet 13:345–347
Hall BD, Langer LO, Giedion A, Smith DW, Cohen MM Jr, Beals RK, Brandner M (1974) Langer-Giedion syndrome. Birth Defects 10: 147–164
Kozlowski K, Harrington G, Barylak A, Bartoszewika B (1977) Multiple exostoses—mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome). Clin Pediatr (Phila) 16:219–224
Langer LO (1969) The thoracic-pelvic-phalangeal dystrophy. Clinical delineation of birth defects IV, skeletal system. Nat Found March of Dimes, New York, pp 55–64
Murachi S, Nogami H, Oki T, Ogino T (1981) Familial tricho-rhinophalangeal 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
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 RI, Lloyd-Still J (1977) Langer-Giedion syndrome: Type II tricho-rhino-phalangeal dysplasia. J Pediatr 91:277
Taysi K, Noetzel MJ, Strauss AW (1979) Presumptive long arm deletion of chromosome 8: a new syndrome? Hum Genet 51:49–53
Turleau C, Chavin-Colin F, de Grouchy J, Maroteaux P, Rivera H (1982) Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23. Hum Genet 62:183–187
Wilson WG, Herrington RT, Aylsworth AS (1979) The Langer-Giedion syndrome: report of a 22-year-old woman. Pediatrics 64:542–545
Wilson WG, Shah H, Wyandt HE (1981) Interstitial deletion of 8q in a patient with multiple exostoses and developmental delay. Am J Hum Genet 33: Abstract 32nd Annual Meeting Am Soc Hum Genet 291:96A
Zabel BU, Baumann WA (1982) Langer-Giedion syndrome with interstitial 8q- deletion. Am J Med Genet 11:353–358
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Dedication This article is dedicated to Professor G.Stalder on the occasion of his 60th birthday
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Bühler, E.M., Bühler, U.K. & Christen, R. Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?. Hum Genet 64, 163–166 (1983). https://doi.org/10.1007/BF00327117
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DOI: https://doi.org/10.1007/BF00327117