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

Fabienne E Marchau, 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) AMERICAN JOURNAL OF MEDICAL GENETICS. 45(4). p.450-455
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).
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author
organization
year
type
journalArticle (original)
publication status
published
subject
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
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
Am. J. Med. Genet.
volume
45
issue
4
pages
450 - 455
Web of Science type
Article
ISSN
0148-7299
DOI
10.1002/ajmg.1320450411
language
English
UGent publication?
yes
classification
A1
id
200648
handle
http://hdl.handle.net/1854/LU-200648
date created
2004-01-14 13:42:00
date last changed
2018-06-21 13:44:56
@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},
}

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.