A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome) |
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Authors: | M I Tejada A Uribarren P Briones M A Vilaseca |
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Institution: | 1. Unidad de Diagnostico Prenatal, Hospital de Cruces, Bilbao, Spain;2. Institut de Bioquimica Clinica. Barcelona, Spain |
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Abstract: | A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts. |
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Keywords: | Pallister-Killian syndrome Mosaic tetrasomy 12p Prenatal diagnosis |
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