Array‐based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions

CONCLUSIONOur study suggests chromosomal regions 1q25.1, 5q35.1, 6q25.3‐qter, 11p14.3, 15q11.2‐q13.1, and 18q21.1 to be involved in human brain development. Within three of these regions, we suggest UBTD2, GPR52, and SKA1 as possible candidate genes. Because the overall detection rate of array‐based molecular karyotyping was slightly higher (23%) than that of conventional prenatal karyotyping (20%), we suggest it's use for prenatal diagnostic testing in fetuses with nonisolated brain malformations. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fbdra.23458

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - December 1, 2015 Category: Perinatology & Neonatology Authors: Sophia K. Krutzke, Hartmut Engels, Andrea Hofmann, Madita M. Schumann, Kirsten Cremer, Alexander M. Zink, Alina Hilger, Michael Ludwig, Ulrich Gembruch, Heiko Reutter, Waltraut M. Merz Tags: Original Research Article Source Type: research