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Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism

Objective: We present tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal isodisomy of uniparental disomy (iso-UPD) for 11q14.3-qter and multiple abnormalities. Case report: A 30-year-old primigravid woman was found to have intrauterine growth restriction (IUG...

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Príomhchruthaitheoirí:	Chih-Ping Chen (Údar), Shuan-Pei Lin (Údar), Schu-Rern Chern (Údar), Peih-Shan Wu (Údar), Shin-Wen Chen (Údar), Fang-Tzu Wu (Údar), Dai-Dyi Town (Údar), Wayseen Wang (Údar)
Formáid:	LEABHAR
Foilsithe / Cruthaithe:	Elsevier, 2021-01-01T00:00:00Z.
Ábhair:	article
Rochtain ar líne:	Connect to this object online.
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