Summary
In the present report we present the first example of a small interstitial 8q24.12 deletion in a patient with trichorhinophalangeal syndrome type I.
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References
Bowen P, Biederman B, Hoo JJ (1985) The critical segment for the Langer-Giedion syndrome: 8q24.1»q24.12. Ann Génét (Paris) 28: 224–227
Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilagenous exostosis. Eur J Pediatr 133: 163–166
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
Fryns JP, Heremans G, Marien J, Van den Berghe H (1983) Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. Hum Genet 64: 194–195
Fukushima Y, Kurori Y, Izawa T (1983) Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13). Hum Genet 64: 90–93
Pfeiffer RA (1980) Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8: 46,XY, del8(q13»22). Clin Genet 18: 142–146
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, Wyandt HE, Shah H (1983) Interstitial deletion of 8q. Am J Dis Child 137: 444–448
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Fryns, J.P., Van den Berghe, H. 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. Hum Genet 74, 188–189 (1986). https://doi.org/10.1007/BF00282091
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DOI: https://doi.org/10.1007/BF00282091