4号染色体的家族性中心粒分裂

Del Porto G, Di Fusco C, Baldi M, Grammatico P, D'Alessandro E

J Med Genet. 1984 Oct;21(5):388-91. doi: 10.1136/jmg.21.5.388.

A centric fission of chromosome 4 is described in the proband and his mother, both phenotypically normal. In addition, partial monosomy for the long arm or the short arm or both of chromosome 4 may have been present in two of the proband's sibs who died in infancy and childhood, respectively.

先证者及其母亲表型均正常，现描述了他们存在4号染色体着丝粒分裂的情况。此外，先证者的两个分别在婴儿期和儿童期死亡的同胞中，可能分别存在4号染色体长臂或短臂或两者的部分单体性。