Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

• Main Authors: Masatake Toshimitsu (Author), Shinichi Nagaoka (Author), Shuusaku Kobori (Author), Maki Ogawa (Author), Fumihiko Suzuki (Author), Takema Kato (Author), Shunsuke Miyai (Author), Rie Kawamura (Author), Hidehito Inagaki (Author), Hiroki Kurahashi (Author), Jun Murotsuki (Author)
• Format: Book
• Published: Hindawi Limited, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia. Chromosome 1p36 deletion syndrome is the most common subtelomeric terminal deletion syndrome, recognized...