Perfumo C, Arslanian A, Zara F, Piombo G, Pierluigi M
Centro Studi Regionale Sindrome di Down, Genova.
Pathologica. 1992 May-Jun;84(1091):363-9.
Non isotopic in situ hybridization with alpha-satellite DNA probes in the cytogenetic diagnosis. Standard banding cytogenetic techniques do not always allow to define the structure and the origin of chromosome rearrangements involving the centromere region. Non-isotopic in situ hybridization of alphoid sequences has allowed to determine the origin of the centromeres in the metaphases of 5 patients referred to us for: 2 structural rearrangements involving chromosome 21, 2 structural rearrangements involving chromosome Y and 1 reciprocal translocation involving on chromosome 20 and one chromosome 15.
α卫星DNA探针非同位素原位杂交技术在细胞遗传学诊断中的应用。标准的显带细胞遗传学技术并不总能明确涉及着丝粒区域的染色体重排的结构和起源。α卫星序列的非同位素原位杂交技术已能够确定5例患者中期细胞着丝粒的起源，这5例患者分别为：2例涉及21号染色体的结构重排、2例涉及Y染色体的结构重排以及1例涉及20号和15号染色体的相互易位。
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