Nucaro A, Faedda A, Cao A, Boccone L
Istituto di ricerca sulle Talassemie e Anemie Mediterranee del CNR, Selargius, Cagliari, Italy.
Genet Couns. 2002;13(4):411-6.
We report a case of partial proximal trisomy of the long arm of chromosome 10 confirmed by fluorescence in situ hibridization (FISH) performed with whole chromosome 10 specific painting and specific yac clones. The phenotypic findings, compared to those found in other published cases with the same karyotype, support the recognition of a distinctive partial proximal trisomy 10q syndrome (10q11-->q22).
我们报告了一例经用10号染色体特异性全染色体涂染和特异性酵母人工染色体（YAC）克隆进行荧光原位杂交（FISH）证实的10号染色体长臂部分近端三体病例。与其他已发表的具有相同核型的病例相比，该病例的表型发现支持一种独特的10q部分近端三体综合征（10q11→q22）的认定。
