Engelen J J, De Die-Smulders C E, Vos P T, Meers L E, Albrechts J C, Hamers A J
Department of Molecular Cell Biology and Genetics, Maastricht University, The Netherlands.
Ann Genet. 1999;42(2):101-4.
Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.
应用荧光原位杂交技术对16q部分三体综合征的特征分析：1例患者报告及文献复习：我们报告1例28岁男性患者，有严重生长发育和智力迟缓、严重行为问题，尤其是自残行为，以及痉挛性四肢瘫。他没有特殊的畸形。核型为46, XY, dir dup(16) (q11.2-q13)。将该患者的临床和细胞遗传学发现与之前报道的3例近端16q重复的病例进行了比较。
