Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation: A case report.

ABSTRACT:

Introduction

Subchromosomal deletions and duplications could currently be detected by noninvasive preliminary screening (NIPS). However, NIPS is a screening test that requires further diagnosis. Here we report a fetus with an autosomal abnormality revealed by NIPS and conventional karyotype combined with copy number variations sequencing (CNV-seq) confirmed the fetus with an unbalanced translocation.

Patient concern

This was the fourth pregnancy of a 30-year-old woman who underwent 2 spontaneous abortions and gave birth to a child with a normal phenotype. The woman and her husband were healthy and nonconsanguineous. NIPS indicated a repeat of about 19-Mb fragment at the region of 16q22.1-q22.4 at 17-week gestation.

Diagnoses

The combination of traditional karyotype an

SUBMITTER: Xie HH 

PROVIDER: S-EPMC7899829 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature