Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
"Essentially pure" partial trisomy (6)(p23 -> pter) in two brothers due tomaternal t(6;17)(p23;p13.3)
Autore:
Rothlisberger, B; Kotzot, D; Gnehm, HE; Schinzel, A;
Indirizzi:
Univ Zurich, Inst Med Genet, CH-8001 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8001 enet, CH-8001 Zurich, Switzerland Kantonsspital Aarau, Kinderklin, Aarau, Switzerland Kantonsspital Aarau Aarau Switzerland u, Kinderklin, Aarau, Switzerland
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 85, anno: 1999,
pagine: 389 - 394
SICI:
0148-7299(19990806)85:4<389:"PPT(->2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSLOCATION;
Keywords:
trisomy (6)(p23 -> pter); FISH; ptosis-blepharophimosis; karyotype-phenotype correlations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
9
Recensione:
Indirizzi per estratti:
Indirizzo: Schinzel, A Univ Zurich, Inst Med Genet, Ramistr 74, CH-8001 Zurich, Switzerland Univ Zurich Ramistr 74 Zurich Switzerland CH-8001 Switzerland
Citazione:
B. Rothlisberger et al., ""Essentially pure" partial trisomy (6)(p23 -> pter) in two brothers due tomaternal t(6;17)(p23;p13.3)", AM J MED G, 85(4), 1999, pp. 389-394

Abstract

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23-->pter) due to a maternal t(6;17)(p23;p13.3), As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23-->pter) characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 08:52:51