Zergollern L, Hitrec V
Clin Genet. 1982 Jan;21(1):1-6. doi: 10.1111/j.1399-0004.1982.tb02071.x.
A Yugoslav family with one female and three male children with Robert's syndrome (RS) is described. To our knowledge, there is no other family with four siblings presenting this genopathy. Most of the symptoms of the fourth sibling were identical to those found in the SC syndrome, suggesting the same genetic origin. The same chromosomal changes which were discovered in the third sibling were also found in the fourth sibling. These chromosomal abnormalities could prove useful for antenatal diagnosis.
描述了一个南斯拉夫家庭,该家庭中有一名女性和三名男性儿童患有罗伯特综合征(RS)。据我们所知,没有其他家庭有四名兄弟姐妹患这种遗传病。第四名兄弟姐妹的大多数症状与在SC综合征中发现的症状相同,这表明有相同的遗传起源。在第三名兄弟姐妹中发现的相同染色体变化也在第四名兄弟姐妹中被发现。这些染色体异常可能对产前诊断有用。