Article
Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.
Genes - 2 Mar 2021
Pooh Ritsuko Kimata, Machida Megumi, Imoto Issei, Arai Eri Noel, Ohashi Hiroyasu, Takeda Masayoshi, Shimokawa Osamu, Fukuta Kaori, Shiozaki Arihiro, Saito Shigeru, Chiyo Hideaki
Abstract excerpt
The phosphatase and tensin homolog (PTEN) gene is a tumor-suppressor gene located on 10q22-23. Since the introduction of molecular genetics in prenatal diagnostics, various birth defects associated with gene mutations have been diagnosed. However, no reports on fetal cases related to PTEN mutation have been found, so far. We encountered a rare case of fetal PTEN mutation. Fetal macrocephaly was noted at 16 weeks....
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