通过荧光原位杂交和分子分析证实16号染色体长臂2区2带至末端（16q22-->qter）存在重复。
Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
作者信息
Houlston R S, Renshaw R M, James R S, Ironton R, Temple I K
机构信息
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
出版信息
J Med Genet. 1994 Nov;31(11):884-7. doi: 10.1136/jmg.31.11.884.
We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.
我们报告了一名患有先天性膝关节脱位及畸形特征的女婴，这些特征包括前额突出、面中部发育不全和小颌畸形。采用荧光原位杂交和微卫星重复序列的聚合酶链反应扩增技术，结果显示她存在一种新发的不平衡易位，导致16q部分三体和15q部分单体（46,XX, -15, tder(15)t(15;16)(q26.1;q22)）。本文讨论了16q部分非整倍体的后果。
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