Pai G S, Thomas G H, Mahoney W, Migeon B R
Clin Genet. 1980 Dec;18(6):436-44. doi: 10.1111/j.1399-0004.1980.tb01790.x.
A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin--the first such instance to be recorded.
本文描述了一名表型异常儿童中涉及三条常染色体和一条X染色体的复杂且独特、看似平衡的易位。利用葡萄糖6磷酸脱氢酶作为标记进行的家系研究提供了该Xq位点非随机表达的生化证据,并表明先证者的这种新发异常可能源于父方——这是首次记录到的此类病例。