Callen D F, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia.
J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828.
The breakpoints of seven interstitial deletions of the long arm of chromosome 16 and two ring chromosomes of this chromosome were mapped by in situ hybridisation or by analysis of mouse/human somatic cell hybrids containing the deleted chromosome 16. Use of a high resolution cytogenetic based physical map of chromosome 16 enabled breakpoints to be assigned to an average resolution of at least 1.6 Mb. In general, interstitial deletions involving q12 or q22.1 have broadly similar phenotypes though there are differences in specific abnormalities. Deletions involving regions more distal, from 16q22.1 to 16q24.1, were associated with relatively mild dysmorphism. One region of the long arm, q24.2 to q24.3, was not involved in any deletion, either in this study or in any previous report. Presumably, monosomy for this region is lethal. In contrast, patients with deletions of 16q21 have a normal phenotype. These results are consistent with the proposed distribution of genes, frequent in telomeric Giesma light band regions but infrequent in G positive bands.
通过原位杂交或对含有缺失的16号染色体的小鼠/人类体细胞杂种进行分析，绘制了16号染色体长臂的7个间质性缺失和该染色体的2个环状染色体的断点。利用基于高分辨率细胞遗传学的16号染色体物理图谱，能够将断点定位到平均分辨率至少为1.6 Mb。一般来说，涉及q12或q22.1的间质性缺失具有大致相似的表型，尽管在特定异常方面存在差异。涉及更远端区域（从16q22.1到16q24.1）的缺失与相对轻微的畸形有关。长臂的一个区域，q24.2至q24.3，在本研究或任何先前报告中均未涉及任何缺失。据推测，该区域的单体性是致死的。相比之下，16q21缺失的患者具有正常表型。这些结果与基因的提议分布一致，基因在端粒吉姆萨浅带区域频繁出现，但在G阳性带中不常见。
