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Titolo:
Paradominant inheritance may explain familial occurrence of cutis marmorata telangiectatica congenital
Autore:
Danarti, R; Happle, R; Konig, A;
Indirizzi:
Univ Marburg, Dermatol Klin, Dept Dermatol, D-35033 Marburg, Germany Univ Marburg Marburg Germany D-35033 Dermatol, D-35033 Marburg, Germany
Titolo Testata:
DERMATOLOGY
fascicolo: 3, volume: 203, anno: 2001,
pagine: 208 - 211
SICI:
1018-8665(2001)203:3<208:PIMEFO>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
LETHAL GENES; HUMAN SKIN; MOSAICISM; ASSOCIATION; DEFECTS; NEVUS; TRAIT;
Keywords:
cutis marmorata telangiectatica congenita; paradominant inheritance; loss of heterozygosity; postzygotic mutation; autosomal mosaicism; Van Lohuizen syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Danarti, R Univ Marburg, Dermatol Klin, Dept Dermatol, Deutschhausstr 9, D-35033 Marburg, Germany Univ Marburg Deutschhausstr 9 Marburg Germany D-35033 Germany
Citazione:
R. Danarti et al., "Paradominant inheritance may explain familial occurrence of cutis marmorata telangiectatica congenital", DERMATOLOGY, 203(3), 2001, pp. 208-211

Abstract

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly that virtually always occurs sporadically and in a patchy, quadrant, unilateral or otherwise segmental manifestation. This would suggest mosaicism of a postzygotic mutation. Some authors, however, described CMTC occurring in several members of a family. This paradox may be explained by the concept of paradominant inheritance. Heterozygous individuals carrying a 'paradominant' mutation are, as a rule, phenotypically normal. The mutation can therefore be transmitted unperceived through many generations. The trait only becomes manifest when a postzygotic mutation occurring during early embryogenesis gives rise to loss of heterozygosity and forms a mosaic population of cells being either homozygous or hemizygous for the mutation. This concept may explain the occasional familial occurrence of CMTC. Copyright (C) 2001 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 00:18:03