D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism

by Osamu Shimokawa, Masayoshi Takeda, Hiroyasu Ohashi, Akemi Shono-Ota, Mami Kumagai, Risa Matsushika, Chika Masuda, Kohtaro Uenishi, Ritsuko Kimata Pooh
Published 2021-02-01

Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with <i>PTEN</i> Mutation

by Ritsuko Kimata Pooh, Megumi Machida, Issei Imoto, Eri Noel Arai, Hiroyasu Ohashi, Masayoshi Takeda, Osamu Shimokawa, Kaori Fukuta, Arihiro Shiozaki, Shigeru Saito, Hideaki Chiyo
Published 2021-03-01