两个家族中的遗传性染色体易位（4号染色体长臂缺失；13号染色体长臂增加和5号染色体长臂缺失；13号染色体长臂增加）
Inherited chromosomal translocation in two families (t(4q-;13q+) and t(5q-; 13q+)).
作者信息
Watanabe G, Kiyoi Y, Takeyama I, Kawana S, Yamamoto M
出版信息
Tohoku J Exp Med. 1977 Feb;121(2):179-84. doi: 10.1620/tjem.121.179.
PMID:847744
Abstract
Two families with reciprocal translocations, t(4q-; 13q+) and t(5q-; 13q+), are reported. Each proband carried multiple malformations resulting from the unbalanced segregation in two mothers of balanced carriers. The karyotype-phenotype relationship is discussed with reference to other previously reported cases of B/D translocation.
摘要
报道了两个患有相互易位的家庭，分别为t(4q-; 13q+)和t(5q-; 13q+)。每个先证者都患有多种畸形，这些畸形是由两个平衡携带者母亲的不平衡分离导致的。结合其他先前报道的B/D易位病例讨论了核型与表型的关系。
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