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Clinical characteristics of five patients who were diagnosed with trisomy 13; phenotypes findings was shown below
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BACKGROUND: Patients who are diagnosed with trisomy 13 (Patau syndrome) are known to have a poor prognosis. It has been hypothesized that such poor outcomes are suspected to be attributed to their central nervous system (CNS)-malformations and cardiac-malformations. This study was conducted at Division of Neuropediatric, Department of Neurosurgery,...
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Context 1
... patients with Patau syndrome who had their diagnosis confirmed at the period of 2012 to 2018 were included in this study (Table 1): Patient #1. was born a term from P2A1 mother (37-38 weeks of gestation), with multiple congenital anomaly (posterior meningioencephalocele rupture, microcephaly, right microphtalmia, immature retina at the left eye, short neck, labiopalatoschisis, and low set ear); karyotype as 47, XY, +13 (Figure 1), and imaging evaluations shown a dextrocardia, right lung dysgenesis, and spina bifida at the corpus of thoracic vertebra 1, 2, and 3; open wound care as treatment for meningioencephalocele rupture with antibiotics therapy for infection occurred and respiratory failure complications ( Figure 2) treated in neonatology intensive care unit with poor prognosis; and apnea as cause of death. Patient #2. was born a term from P1A0 mother (37-38 weeks of gestation); with multiple congenital anomaly (microcephaly with sloping forehead, widely set eyes, labiopalatoschisis, omphalocele); karyotype as 47, XX, +13, and imaging evaluations shown polydactyl; complications from sepsis neonatorum treated in neonatology intensive care unit with poor prognosis; and severe infection as cause of death. ...