Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect

MATERNAL UNIPARENTAL DISOMY OF CHROMOSOM

MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION, HYPOSPADIAS, AND OLIGOHYDRAMNIOS

✍ WENDY F. HANSEN; LYNN E. BERNARD; SYLVIE LANGLOIS; KATHLEEN W. RAO; NANCY C. CHE 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB 👁 1 views

We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features co