van de Vooren M J, Planteydt H T, Hagemeijer A, Peters-Slough M F, Timmerman M J
Clin Genet. 1984 Jan;25(1):52-8. doi: 10.1111/j.1399-0004.1984.tb00462.x.
The phenotype of a boy with monosomy of a small segment of chromosome (10) (q24.2----q25.3) is described. In his family a balanced insertion (5;10) is found in three generations. Moreover there are two persons who are trisomic for the same small segment of chromosome 10 for which the boy is monosomic.
本文描述了一名患有染色体(10)一小段(q24.2----q25.3)单体型的男孩的表型。在他的家族中,三代人都发现了一种平衡插入(5;10)。此外,还有两个人对于该男孩为单体型的染色体10的同一段小片段为三体型。