A severely short-statured girl with 47,XX,+14/46,XX,upd(14) mat, mosaicism

Ushijima, K; Yatsuga, S; Matsumoto, T; Nakamura, A; Fukami, M; Kagami, M

Kagami, M (reprint author), Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan.

JOURNAL OF HUMAN GENETICS, 2018; 63 (3): 377

Abstract

The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental......

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