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- W1987848064 abstract "Ultrasound examination of a 27-year-old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious meta-centric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12→qter. Eight live-born and severely malformed infants with this duplication have been reported in the literature." @default.
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- W1987848064 date "1991-05-01" @default.
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- W1987848064 title "Partial trisomy 22q12→qter in prenatal diagnosis" @default.
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- W1987848064 doi "https://doi.org/10.1002/pd.1970110511" @default.
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