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Titolo:
Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families
Autore:
Guttenbach, M; Haaf, T; Steinlein, C; Caesar, J; Schinzel, A; Schmid, M;
Indirizzi:
Univ Wurzburg, Inst Human Genet, Biozentrum, D-97074 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-97074 entrum, D-97074 Wurzburg, Germany Max Planck Inst Mol Genet, D-14195 Berlin, Germany Max Planck Inst Mol Genet Berlin Germany D-14195 D-14195 Berlin, Germany Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8001 enet, CH-8001 Zurich, Switzerland
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 36, anno: 1999,
pagine: 339 - 342
SICI:
0022-2593(199904)36:4<339:ENOHC4>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
NUCLEOLAR ORGANIZER REGIONS; SATELLITED CHROMOSOME-4; Y-CHROMOSOME; REPLICATION; SUPPRESSION; DELETION; GENES; CELLS; ARM;
Keywords:
nucleolus organiser region; non-acrocentric chromosome; 4qs; NOR insertion;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Schmid, M Univmanyzburg, Inst Human Genet, Biozentrum, Hubland, D-97074 Wurzburg, Ger Univ Wurzburg Hubland Wurzburg Germany D-97074 74 Wurzburg, Ger
Citazione:
M. Guttenbach et al., "Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families", J MED GENET, 36(4), 1999, pp. 339-342

Abstract

Two different NOR bearing non-acrocentric chromosomes were detected duringprenatal diagnosis performed on two probands because of advanced maternal age. In the first case, a chromosome 4 carried a NOR in the telomeric region of the long arm (4qs), while in the second case a NOR was inserted into chromosome 8q11. Family analysis showed the variant chromosomes to be transmitted through at least three generations in each family. There were no reports of reproductive problems or phenotypic effects in the carriers of thesechromosomes, indicating the benign character of the aberrant chromosomes. In order to characterise the chromosomal variants more precisely, various differential banding techniques were applied.

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Documento generato il 29/11/20 alle ore 16:18:05