Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

ABSTRACT:

Background

Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21. This is the second well-documented description of a complete tetrasomy 21 in the literature.

Methods

Prenatal and fetal pathological examinations, cytogenetic and molecular analyses were performed to characterize fetal features with tetrasomy 21.

Results

Prenatal ultrasound examination revealed an isolated complete atrioventricular septal defect with normal karyotype on amniotic fluid. After termination of pregnancy, clinical examination of the fetus evoked trisomy 21 or Down syndrome. Chromosomal mi

SUBMITTER: Gatinois V 

PROVIDER: S-EPMC6825868 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature