Eeg-Olofsson O, Liedgren S
Acta Paediatr Scand. 1981 Jul;70(4):581-2. doi: 10.1111/j.1651-2227.1981.tb05746.x.
An earlier report in this journal (1968) dealt with an inherited chromosome aberration in a girl with signs of de Lange syndrome and her family. A translocation between a 13--15 and a 4--5 chromosome, with the unbalanced proposita having an additional segment from one end of a 13--15 chromosome was found. A 6--12 chromosome involvement could not be excluded. The mother and two phenotypically normal sisters had a balanced karyotype. With modern technique a more complex translocation has been found. A part of one chromosome no. 5 is translocated to one chromosome no. 9, a fragment of this chromosome is probably translocated to one chromosome no. 13, and a part of this one is translocated to the first-mentioned chromosome no. 5. The mother and sisters have this balanced chromosomal aberration. The proposita in addition has two normal chromosomes no. 13. Thus she has a partial trisomy of chromosome no. 13. Reinvestigation of older reports on chromosomal aberrations in risk families in order to achieve a more reliable diagnosis in phenotypically normal members of the same family is emphasized.
本刊1968年的一篇早期报道涉及一名患有德朗热综合征体征的女孩及其家族中的一种遗传性染色体畸变。发现一条13 - 15号染色体与一条4 - 5号染色体之间发生了易位，患病女孩染色体不平衡，多了一段来自13 - 15号染色体一端的片段。不能排除6 - 12号染色体受累。母亲和两个表型正常的姐妹核型平衡。运用现代技术发现了一种更复杂的易位。5号染色体的一部分易位到9号染色体，该9号染色体的一个片段可能易位到13号染色体，而13号染色体的一部分又易位到上述的5号染色体。母亲和姐妹们有这种平衡的染色体畸变。患病女孩还多了两条正常的13号染色体。因此她存在13号染色体部分三体。强调对风险家族中染色体畸变的既往报道进行重新研究，以便在同一家族表型正常的成员中做出更可靠的诊断。
