Prenatal diagnosis ofde novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.