Three cases of mosaicism for balanced reciprocal translocations

• Type: Article in International Scientific Journal
• Date: 1998

Authors

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

Journal

Title: American Journal of Medical Genetics

Vol. 79

Pages: 362-365

ISSN: 0148-7299

Publisher: Wiley

Indexing

ISI Web of Knowledge - 8 Citations

Scopus - 9 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4