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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16 Citations (Scopus)

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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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",

month = feb,

day = "15",

doi = "10.1002/ajmg.1320450411",

language = "English",

volume = "45",

pages = "450--455",

journal = "Am J Med Genet A",

issn = "0148-7299",

publisher = "Wiley-Liss",

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TY - JOUR

T1 - TRICHORHINOPHALANGEAL SYNDROME TYPE-I (TRP-I) DUE TO AN APPARENTLY BALANCED TRANSLOCATION INVOLVING 8Q24

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

PY - 1993/2/15

Y1 - 1993/2/15

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

KW - TRP

KW - LANGER-GIEDION

KW - TRANSLOCATION 8Q24

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

VL - 45

SP - 450

EP - 455

JO - Am J Med Genet A

JF - Am J Med Genet A

SN - 0148-7299

IS - 4

ER -

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

Abstract

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