BIẾN ĐỔI DI TRUYỀN VÀ ĐẶC ĐIỂM LÂM SÀNG CỦA BỆNH NHÂN TRISOMY MỘT PHẦN NST 13: BÁO CÁO CA BỆNH
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Abstract
Partial trisomy of chromosome 13 is a rare syndrome, manifested with diverse clinical symptoms such as neurological malformations, complex congenital heart defects, and craniofacial malformations. Severe symptoms can manifest from the fetal period causing miscarriage, stillbirth, or death in the first year. Some cases may have a longer life span, with multiple malformations such as: abnormal face, slow development, congenital heart disease, polydactyly, facial malformations, seizures. This study reports 1 case of a patient with partial trisomy 13 with clinical manifestations: abnormal face, cleft palate, congenital hydrocephalus, psychomotor retardation. The patient had the following chromosome analysis results: 46,XX,+der(13)t(13;21)(q32;q21),-21mat, the chromosomal abnormality originated from the mother. With this chromosome analysis result, in addition to the partial trisomy of chromosome 13, the patient also has a partial monosomy of chromosome 21. Partial monosomy of chromosome 21 at 21p13-q21 is also a rare chromosome abnormality with common symptoms of mild to moderate mental retardation.
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Keywords
HC Patau, trisomy 13, trisomy một phần NST 13, monosomy 21 một phần, Patau syndrome, partial trisomy 13, partial monosomy 21
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