Normal sperm in a 2;2 homologous male translocation carrier

• Type: Article in International Scientific Journal
• Date: 2012

Authors

almeida, c (Author) Other; doria, s (Author) FMUP; moreira, m (Author) Other; pinto, j (Author) Other; barros, a (Author) FMUP

Journal

Title: Journal of Assisted Reproduction and Genetics

Vol. 29

Pages: 665-668

ISSN: 1058-0468

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 5 Citations

Scopus - 6 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-002-8B4

DOI: 10.1007/s10815-012-9770-6

Abstract (EN): Carriers of balanced structural chromosomal abnormalities are phenotypically normal but are at high risk of infertility. Translocations usually occur between two non-homologous chromosomes. When occur between homologous chromosomes, an extremely rare event, generally involve acrocentric chromosomes. We present an infertile male referred for genetic analysis with a pure balanced homologous 2;2 translocation and normal sperm in the ejaculate. Conventional cytogenetic and fluorescence in situ hybridization (FISH) were used in karyotype and sperm analysis, respectively. Male's karyotype revealed a pure balanced translocation involving homologous chromosomes 2: 46,XY,t(2;2)(p23;q21.2). Sperm analysis by FISH revealed the presence of 15.8 % of normal and 84.2 % of abnormal spermatozoa for chromosome 2. This is the first report of confined gonadal mosaicism in a pure homologous non-acrocentric chromosome translocation carrier. Preimplantation genetic diagnosis for chromosome 2 should be offered as a reproductive option.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4