Prenatal diagnosis of a de novo partial trisomy 17q case associated with increased nuchal translucency, hypoplastic left heart syndrome, cerebral anomalies: Case report

Abstract

Partial trisomy of distal 17q is rare. Until now, 32 cases of partial trisomy for the distal region of 17q were reported. Our case has multiple anomalies, such as increased nuchal translucency, hypoplastic left heart syndrome and cerebral anomalies by routine prenatal ultrasonografic screen. Our case's karyotype was determined as 46,XX,der(4)(17qter→17q21::4pter→4qter)dn due to de novo chromosomal rearrangement. Cytogenetic results performed with FISH analysis. Our case is the first reported case of a de novo derivative chromosome 4 arising from partial trisomy 17q. The 4p terminal deletion was not determined by FISH with the 4p telomere probe so we considered that the clinical findings of our case associated with partial trisomy 17q. We have reported this case to contribute to the literature and to provide benefit in the genetic counceling.