Three cases of mosaicism for balanced reciprocal translocations

• Tipo: Artigo em Revista Científica Internacional
• Data: 1998

Autores

Leegte, B (Autor) Outra; Sikkema Raddatz, B (Autor) Outra; Hordijk, R (Autor) Outra; Bouman, K (Autor) Outra; van Essen, T (Autor) Outra; CASTEDO, S (Autor) FMUP; de Jong, B (Autor) Outra

Revista

Título: American Journal of Medical Genetics

Vol. 79

Páginas: 362-365

ISSN: 0148-7299

Editora: Wiley

Indexação

ISI Web of Knowledge - 8 Citações

Scopus - 9 Citações

Outras Informações

ID Authenticus: P-001-6XP

DOI: 10.1002/(sici)1096-8628(19981012)79:5<362::aid-ajmg6>3.0.co;2-l

Abstract (EN): Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a normal phenotypic outcome have been described. Here we present three further cases of BRTM in lymphocyte cultures. The first was detected during a family study, the second after an abnormal karyotype in chorionic villus sampling, and the third because of a history of stillborn children, All three carriers have normal phenotypes, An inventory of the BRTM cases reported so far is made. Am. J. Med. Genet. 79:362-365, 1998, (C) 1998 Wiley-Liss, Inc.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4