伴有13号和22号染色体部分三体的家族性易位：证据表明13号和22号染色体的特定区域分别导致了各三体的表型。
Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.
作者信息
Kim H J, Hsu L Y, Goldsmith L C, Strauss L, Hirschhorn K
出版信息
J Med Genet. 1977 Apr;14(2):114-9. doi: 10.1136/jmg.14.2.114.
Abstract
A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.
摘要
一名具有典型13三体和22三体综合征临床及病理表现的新生儿有一条额外的染色体，该染色体是源自母亲13号和22号染色体平衡易位的衍生染色体；核型为47,XY,+der(22),t(13:22)(q22:q12)Mat。13号染色体（13q22和/或13q34）和22号染色体（22q11）额外特定常染色质区域的存在似乎是导致13三体和22三体综合征的原因。
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