Normal sperm in a 2;2 homologous male translocation carrier

• Tipo: Artigo em Revista Científica Internacional
• Data: 2012

Autores

almeida, c (Autor) Outra; doria, s (Autor) FMUP; moreira, m (Autor) Outra; pinto, j (Autor) Outra; barros, a (Autor) FMUP

Revista

Título: Journal of Assisted Reproduction and Genetics

Vol. 29

Páginas: 665-668

ISSN: 1058-0468

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 5 Citações

Scopus - 6 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências da terra e ciências do ambiente

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4