TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24

FE MARCHAU; BC VANROY; PM PARIZEL; C. LAMBERT; null DECANCK; JG LEROY; CM GEVAERT; PJ WILLEMS; JE DUMON

doi:10.1002/ajmg.1320450411

TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24

FE MARCHAU, BC VANROY, PM PARIZEL, C. LAMBERT, DECANCK, JG LEROY, CM GEVAERT, PJ WILLEMS, JE DUMON

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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).

Original language	English
Pages (from-to)	450-455
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	45
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320450411
Publication status	Published - 15 Feb 1993
Externally published	Yes

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10.1002/ajmg.1320450411

Cite this

MARCHAU, FE., VANROY, BC., PARIZEL, PM., LAMBERT, C., DECANCK, LEROY, JG., GEVAERT, CM., WILLEMS, PJ., & DUMON, JE. (1993). TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24. American Journal of Medical Genetics, 45(4), 450-455. https://doi.org/10.1002/ajmg.1320450411

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title = "TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24",

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 = "TRICHORHINOPHALANGEAL SYNDROME, TRP, LANGER-GIEDION, TRANSLOCATION 8Q24, TRISOMY-8, LANGER-GIEDION SYNDROME, CHROMOSOME-8 LONG ARM, INTERSTITIAL DELETION, CRITICAL SEGMENT, MUSCULAR-DYSTROPHY, MENTAL-RETARDATION, EXOSTOSES, GENE, REARRANGEMENT",

author = "FE MARCHAU and BC VANROY and PM PARIZEL and C. LAMBERT and DECANCK and JG LEROY and CM GEVAERT and PJ WILLEMS and JE DUMON",

year = "1993",

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day = "15",

doi = "10.1002/ajmg.1320450411",

language = "English",

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AU - MARCHAU, FE

AU - VANROY, BC

AU - PARIZEL, PM

AU - LAMBERT, C.

AU - DECANCK, null

AU - LEROY, JG

AU - GEVAERT, CM

AU - WILLEMS, PJ

AU - DUMON, JE

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N2 - 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).

AB - 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).

KW - TRICHORHINOPHALANGEAL SYNDROME

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KW - TRISOMY-8

KW - LANGER-GIEDION SYNDROME

KW - CHROMOSOME-8 LONG ARM

KW - INTERSTITIAL DELETION

KW - CRITICAL SEGMENT

KW - MUSCULAR-DYSTROPHY

KW - MENTAL-RETARDATION

KW - EXOSTOSES

KW - GENE

KW - REARRANGEMENT

U2 - 10.1002/ajmg.1320450411

DO - 10.1002/ajmg.1320450411

M3 - Article

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JO - Am J Med Genet A

JF - Am J Med Genet A

SN - 0148-7299

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ER -