母女均患18号染色体长臂缺失综合征。
18q- syndrome in mother and daughter.
作者信息
Fryns J P, Logghe N, van Eygen M, van den Berghe H
出版信息
Eur J Pediatr. 1979 Mar 1;130(3):189-92. doi: 10.1007/BF00455265.
PMID:421697
Abstract
The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for the 18q- phenotype must be located in or near band 18q21, in which the break is assumed to have occurred.
摘要
在一位母亲及其女儿身上发现了18q-综合征。她们两人都存在一种相同的、看似平衡的18q-/14p+易位（核型：46,XX,t(14;18)(p11;q21)），这表明在易位过程中染色体物质发生了丢失。导致18q-表型的缺失片段必定位于18q21带或其附近，据推测断裂就发生在此处。
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