Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features.
Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features.
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遗传性间质 del(Xp) 具有最小的临床后果：附有控制表型特征的基因位置的注释。
DOI：
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发表时间：
1979
期刊：
影响因子：
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通讯作者：
A. de la Chapelle
中科院分区：
文献类型：
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作者：
R. Herva;B. Kałużewski;A. de la Chapelle
在一家智障医院的门诊常规细胞遗传学调查中，发现一名26岁的女性，其X染色体的一条短臂被推测为间质性缺失。在她的表型正常的母亲和她的四个姐妹中的一个身上发现了同样的异常，所有的表型都是正常的。通过GTG-和QFQ-分带方法，该缺失被解释为涉及整个条带Xp21以及p11和p22的相邻部分。核型为46，X，del(X)(pTER导致p22：：p11导致QTER)。通过放射自显影和Bud R acridine橙技术，缺失的X在所有三个患者中都是晚期复制的X。该缺失显然会导致身材矮小，但不会出现其他表型症状或体征。因此，控制身高的一个或多个基因位于Xp21带或紧邻该带的区域。由于这一区域的缺失不会导致条纹性腺，所以它不包含控制卵巢形成的基因。这似乎是第一个与正常表型和生殖兼容的可遗传染色体缺失的例子。
In a routine cytogenetic investigation of the outpatients of a hospital for the mentally retarded, a 26-year-old women with a presumptive interstitial deletion of the short arm of one of the X chromosomes was found. The same aberration was found in her phenotypically normal mother and in one of her four sisters, all phenotypically normal. By GTG- and QFQ-banding methods, the deletion was interpreted to involve the entire band Xp21 and adjacent parts of p11 and p22. The karyotype is written 46,X,del(X)(pter leads to p22::p11 leads to qter). By autoradiography and Bud R acridine orange technique, the deleted X was the late replicating one in all three affected persons. The deletion apparently causes shortness of stature but no other phenotypic symptoms or signs. Hence a gene or genes controlling stature is located in band Xp21 or regions immediately adjacent to this band. Since the absence of this region does not cause streak gonads, it does not contain genes controlling the formation of the ovaries. This appears to be the first example of a heritable chromosome deletion compatible with a normal phenotype and reproduction.