由于一个相互易位在四代人中分离而导致的11号染色体长臂重复和5号染色体短臂缺失综合征。
Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations.
作者信息
Mutchinick O, Ramos Z, Sánchez F, Ruz L, Lisker R, Ovseyevitz J
机构信息
Departamento de Genética, Instituto Nacional de la Nutrición Salvador Zubrián, México, D.F.
出版信息
Am J Med Genet. 1988 Jan;29(1):187-92. doi: 10.1002/ajmg.1320290124.
We report on 2 relatives with duplication 11q and deletion 5p, resulting from an adjacent-1 segregation of a balanced reciprocal translocation 5p15;11q23, segregating in 4 generations of this family. Twelve out of 16 at-risk relatives of inheriting the translocation were shown to be carriers, giving a significant (p less than .05) 3:1 ratio of carriers/noncarriers. The breakpoint on chromosome 11 at q23 is a folate sensitive fragile site into where the proto-oncogene c-ets has been mapped.
我们报告了2例患有11号染色体长臂重复和5号染色体短臂缺失的亲属，这是由平衡易位5p15；11q23的邻接-1分离所致，该易位在这个家族的4代中进行分离。16名有遗传该易位风险的亲属中有12名被证明是携带者，携带者与非携带者的比例为3:1，具有显著意义（p小于0.05）。11号染色体q23处的断点是一个对叶酸敏感的脆性位点，原癌基因c-ets已定位于此。
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