Bernstein R, Milne A T, Jenkins T
J Med Genet. 1978 Aug;15(4):310-4. doi: 10.1136/jmg.15.4.310.
Cytogenetic investigation of a 3-year-old mentally retarded boy revealed a translocation of the long arm of chromosome 4 onto the short arm of chromosome 9, with ring formation of the remaining short arm of chromosome 4. The clinical features are described and correlated with the cytogenetic findings. The behaviour of the ring derived from a deleted chromosome 4 is discussed.
对一名3岁智力发育迟缓男孩进行的细胞遗传学研究显示,4号染色体长臂易位至9号染色体短臂,4号染色体剩余短臂形成环状。本文描述了临床特征,并将其与细胞遗传学发现相关联。文中还讨论了源自缺失4号染色体的环状染色体的行为。