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Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24

Author
Organization
Abstract
Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).
Keywords
MENTAL-RETARDATION, CHROMOSOME-8 LONG ARM, EXOSTOSES, GENE, REARRANGEMENT, MUSCULAR-DYSTROPHY, LANGER-GIEDION SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TRP, LANGER-GIEDION, TRANSLOCATION 8Q24, TRISOMY-8, CRITICAL SEGMENT, INTERSTITIAL DELETION

Citation

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Chicago
Marchau, Fabienne E, Bernadette C Van Roy, Paul M Parizel, Julien R Lambert, Ilse De Canck, Juliaan Leroy, Carine M Gevaert, Patrick J Willems, and Jan E Dumon. 1993. “Tricho-rhino-phalangeal Syndrome Type I (TRP I) Due to an Apparently Balanced Translocation Involving 8q24.” American Journal of Medical Genetics 45 (4): 450–455.
APA
Marchau, F. E., Van Roy, B. C., Parizel, P. M., Lambert, J. R., De Canck, I., Leroy, J., Gevaert, C. M., et al. (1993). Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24. AMERICAN JOURNAL OF MEDICAL GENETICS, 45(4), 450–455.
Vancouver
1.
Marchau FE, Van Roy BC, Parizel PM, Lambert JR, De Canck I, Leroy J, et al. Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24. AMERICAN JOURNAL OF MEDICAL GENETICS. 1993;45(4):450–5.
MLA
Marchau, Fabienne E, Bernadette C Van Roy, Paul M Parizel, et al. “Tricho-rhino-phalangeal Syndrome Type I (TRP I) Due to an Apparently Balanced Translocation Involving 8q24.” AMERICAN JOURNAL OF MEDICAL GENETICS 45.4 (1993): 450–455. Print.
@article{200648,
  abstract     = {Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).},
  author       = {Marchau, Fabienne E and Van Roy, Bernadette C and Parizel, Paul M and Lambert, Julien R and De Canck, Ilse and Leroy, Juliaan and Gevaert, Carine M and Willems, Patrick J and Dumon, Jan E},
  issn         = {0148-7299},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS},
  keyword      = {MENTAL-RETARDATION,CHROMOSOME-8 LONG ARM,EXOSTOSES,GENE,REARRANGEMENT,MUSCULAR-DYSTROPHY,LANGER-GIEDION SYNDROME,TRICHORHINOPHALANGEAL SYNDROME,TRP,LANGER-GIEDION,TRANSLOCATION 8Q24,TRISOMY-8,CRITICAL SEGMENT,INTERSTITIAL DELETION},
  language     = {eng},
  number       = {4},
  pages        = {450--455},
  title        = {Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24},
  url          = {http://dx.doi.org/10.1002/ajmg.1320450411},
  volume       = {45},
  year         = {1993},
}

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