Periodicidad semestral: flujo continuo.
ISSN - Electrónico: 2661-6947 / DOI: 10.36015 • LILACS BIREME (19784); LATINDEX (20666)
Introduction: Stillbirth is either a fetus loss after 20 weeks of gestation or with a birth weight greater than 500 g. Congenital malformations accounts for 16.5% of all cases, of which 9.8% have multiple malformations and 6.7% have only a single organ or system affected. Case report: A 26 weeks-old stillbirth affected by multiple malformations. Parents were young, without consanguinity between them. Nothing was remarkable in their past history. Malformations found were: rocker-bottom feet; facial dysruption; hypertelorism; micrognathia; scoliosis; down slanting ears. Femenin karyotype showing a structural chromosomal imbalance: a deletion on the short arm of chromosome 5 (46, XX del 5pter→p15). Since this chromosomal abnormality was found, both parents underwent cytogenetic analysis. The father was found to have an insertion: 46, XY, ins (5; 12) (p15.1 →pter) Discussion: The results agreed that chromosome 5pis of paternal inheritance in 80% of cases. This report highlights the importance of the cytogenetic analysis in fetal dymorphic deaths. It also showed the value of the parental chromosomic studies when a structural aberration is found. In this case, according to the reported chromosomal findings, the risk of recurrence might be 5%.
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