因15/18易位导致的18号染色体短臂缺失综合征伴面瘫和耳聋。
An 18p- syndrome due to 15/18 translocation with facial palsy and deafness.
作者信息
Adachi K, Hayashi M
出版信息
Tohoku J Exp Med. 1981 Mar;133(3):307-11. doi: 10.1620/tjem.133.307.
PMID:7314083
Abstract
A case of translocation between chromosomes No. 15 and 18 was described. Phenotype of the patient was almost consistent with that of the 18p- syndrome. In addition to the typical feature of 18p- syndrome, he had perceptive deafness, and abducens nerve and facial nerve palsies. Giemsa-binding technique demonstrated patient's karyotype to be 45, XY, -15, -18, +t (15; 18).
摘要
描述了一例15号与18号染色体之间易位的病例。患者的表型与18p-综合征几乎一致。除了18p-综合征的典型特征外，他还有感觉神经性耳聋、展神经和面神经麻痹。吉姆萨染色技术显示患者的核型为45，XY，-15，-18，+t(15;18)。
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