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Revista Cubana de Obstetricia y Ginecología

versão impressa ISSN 0138-600X

Resumo

MOLINA GAMBOA, Odalis; MENDEZ ROSADO, Luis Alberto; BARRIOS MARTINEZ, Anduriña  e  VINALES PEDRAZA, María Idania. Chromosome 21 Inversioninusual in a Recurrent Abortion Patient. Rev Cubana Obstet Ginecol [online]. 2014, vol.40, n.3, pp. 349-353. ISSN 0138-600X.

Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2 %. A woman with repeated first trimester pregnancy loss was referred to cytogenetic laboratory of The National Center of Human Genetics. A karyotype conventional banding technique at resolution of ~450 was made. The patient presented an unusual pericentric inversion 46,XX,inv (21)(p11.2 q21.1). The possible gametes as result of crossover events (during the pachytene stage of meiosis I) were discussed. The risk of miscarriages and malformed children were evaluated according the breakpoint in 21 chromosome.

Palavras-chave : Chromosome 21; inversion pericentric.

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