A case of polimalformed fetus with a microdeletion of CTNNA3 gene.

Autor:	Cancemi D; Ricerche e diagnosi genetiche Cancemi, Naples, Italy., Urciuoli M; Seconda Università degli Studi (SUN), Naples, Italy., Morelli F; Institute of Genetics and Biophysics, CNR Naples, Naples, Italy., Lonardo MC; Università degli Studi Federico II, Naples, Italy., Lonardo V; Università degli Studi Federico II, Naples, Italy., Spampanato C; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Ventruto M; Ospedale Giuseppe Moscati, Avellino, Naples, Italy., Ventruto V; Institute of Genetics and Biophysics, CNR Naples, Italy., Sica C; Centro privato di Diagnosi Prenatale MEDISICA, Naples, Italy.
Jazyk:	angličtina
Zdroj:	Journal of prenatal medicine [J Prenat Med] 2016 Jul-Dec; Vol. 10 (3-4), pp. 20-22.
DOI:	10.11138/jpm/2016.10.3.020
Abstrakt:	We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene.
Databáze:	MEDLINE
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