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

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 tra...

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Veröffentlicht in:	American journal of medical genetics 1993-02, Vol.45 (4), p.450-455
Hauptverfasser:	Marchau, Fabienne E., Van Roy, Bernadette C., Parizel, Paul M., Lambert, Julien R., De Canck, Ilse, Leroy, Jules G., Gevaert, Carine M., Willems, Patrick J., Dumon, Jan E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult Biological and medical sciences chromosome 18 chromosome 8 Chromosome aberrations Chromosome Banding Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 8 Female Fingers - abnormalities Hair - abnormalities Humans Infant Karyotyping Langer-Giedion Male man Medical genetics Medical sciences Nose - abnormalities Osteochondrodysplasias - genetics Pelvis - abnormalities Syndrome translocation translocation 8q24 Translocation, Genetic tricho-rhino-phalangeal syndrome tricho-rhino-phalangeal syndrome I trisomy 8 TRP
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Zusammenfassung:	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). © 1993 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320450411