Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound

201816 citationsJournal Articlediamond Open Access

Authors

Chih‐Ping Chen · Asia University

Sui‐Yuan Chang · Mackay Memorial Hospital

Liang‐Kai Wang · Mackay Memorial Hospital

Tung-Yao Chang

Schu‐Rern Chern · Mackay Memorial Hospital

Peih-Shan Wu

Shin-Wen Chen · Mackay Memorial Hospital

Shih-Ting Lai ·

Abstract

Fetuses with a 15q11.2 (BP1-BP2) microdeletion may present ventriculomegaly, microcephaly and IUGR on prenatal ultrasound, and aCGH is helpful for prenatal diagnosis under such a circumstance.

Topics & Keywords

Congenital heart defects research Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Taiwanese Journal of Obstetrics and Gynecology

Volume 57, Issue 5, pp. 730-733

DOI: 10.1016/j.tjog.2018.08.022

Field-Weighted Citation Impact: 0.83