Prenatal diagnosis of tetrasomy 47,XY, + i(12p) confirmed by in situ hybridization |
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| Authors: | L Shivashankar E Whitney G Colmorgen T Young G Munshi D Wilmoth K Byrne G Reeves Dr D S Borgaonkar S R Picciano P A Marttn-Deleon |
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| Institution: | 1. Medical Center of Delaware, Inc., Delaware, U.S.A.;2. University of Delaware, Delaware, U.S.A. |
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| Abstract: | A case of tetrasomy i(12p) detected prenatally is reported. The patient, a black, 33-year-old G3P2002 at 24 weeks' gestation with an unremarkable family history presented herself for prenatal care. Ultrasound examination showed a fetus with diminished femoral and humeral lengths, and hydramnios. A level II scan confirmed the presence of an omphalocele. Amniocentesis at 31 weeks showed 47,XY, + i(12p) karyotype. An infant with multiple congenital anomalies was delivered at 34 weeks. The infant died after 5 h. Genetic and ultrasonographic examinations in the third trimester were helpful in the investigation of this fetus with multiple congenital anomalies. The careful, complete team counselling afforded by this approach enabled the mother and family to be well adjusted to the strong possibility (and subsequent reality) of an abnormal infant. |
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| Keywords: | Tetrasomy i(12p) in situ hybridization Pallister-Killian syndrome |
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