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SINDROM JACOB: TRISOMI KROMOSOM LANGKA
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Abstrak: Sindrom Jacob: Trisomi Kromosom Langka[A1] . Sindrom Jacob, yang ditandai dengan kehadiran kromosom seks Y tambahan (47,XYY) dalam setiap sel, adalah kelainan genetik yang langka. Ini memengaruhi sekitar 1 dari 1000 kelahiran laki-laki hidup dan seringkali terdiagnosis secara terlambat karena variasi fenotipiknya. Berbeda dengan mitos awal, individu dengan Sindrom Jacob tidak secara inheren agresif atau kurang empati. Manifestasi umumnya meliputi gangguan belajar, peningkatan tinggi badan selama masa remaja, perkembangan bicara dan bahasa yang tertunda, gangguan hiperaktivitas dan gangguan spektrum autis (ASD). Beberapa individu mungkin mengalami asma, kejang, tremor, dan masalah reproduksi. Diagnosis sering terlambat karena kurangnya ciri fisik yang khas, tetapi dapat ditegakkan sejak dini atau setelah kelahiran melalui teknik kariotipe yang akurat. Patofisiologi sindrom ini terkait dengan kehadiran dua kromosom Y dalam sperma selama meiosis II pada generasi orang tua atau mosaikisme. Memahami dasar genetik Sindrom Jacob penting untuk diagnosis dan manajemen yang tepat, terutama dalam konteks kesuburan dan potensi penyaluran kromosom Y tambahan kepada keturunan.
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DOI: https://doi.org/10.33024/jikk.v11i1.12983
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