McCarthy G T, Fear C N, Berry A C
J Med Genet. 1986 Oct;23(5):466-7. doi: 10.1136/jmg.23.5.466.
We report a kindred in which three children suffer from partial trisomy 1q and partial monosomy 3p, transmitted by a balanced translocation which is maternal in one family and paternal in the other. The clinical features of the three children are similar and include severe mental handicap and severe scoliosis in the older two.
我们报告了一个家系，其中三个孩子患有1q部分三体和3p部分单体，由一个平衡易位传递，在一个家庭中是母系遗传，在另一个家庭中是父系遗传。这三个孩子的临床特征相似，包括严重智力障碍，年龄较大的两个孩子还患有严重脊柱侧弯。
