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Full trisomy 5 in a sample of spontaneous abortion and Arias Stella reaction

Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal ; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal abnormality, followed by trisomy 21, and trisomy 22. So far only one case of a female fetus with multiple congenital malformations associated with full trisomy 5 was described. We present here one more case of de novo full trisomy 5 in spontaneous abortion sample. Young couple with normal constitutional karyotype experienced the second spontaneous abortion at 9 weeks of gestation with the cytogenetically formula 47, XX, +5 in all analyzed cells. The routine cytogenetic analysis of miscarriages is still an uncommon practice, which has a great impact on the management of couples with repeated pregnancy wastage. Besides of obvious cost benefit for health care, such analysis would help the physician to decide about future patient’s management as well as planning the genetic counseling.

trisomy 5; spontaneous abortion; Arias Stella reaction

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