Article
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.
Clinical epigenetics - 7 Apr 2021
Masunaga Yohei, Kagami Masayo, Kato Fumiko, Usui Takeshi, Yonemoto Takako, Mishima Kazuo, Fukami Maki, Aoto Kazushi, Saitsu Hirotomo, Ogata Tsutomu
Abstract excerpt
BACKGROUND: Parthenogenetic mosaicism is an extremely rare condition identified only in five subjects to date. The previous studies indicate that this condition is mediated by parthenogenetic activation and is free from a specific phenotype ascribed to unmaking of a maternally inherited recessive variant in the parthenogenetic cell lineage. RESULTS: We examined a 28-year-old Japanese 46,XX female with...
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