Bajnóczky K, Meggyessy V
Acta Paediatr Hung. 1985;26(2):151-6.
Cytogenetic examination of a boy with congenital multiple arthrogryposis, VSD and dysmorphic facies revealed a probable t(Y; 13)(q?; p1) translocation and three NOR-positive dots on one of the chromosomes 13. The latter variant could be followed in the family of the mother, the 13/Y translocation was found in the relatives of the father. Since all the family members affected by one or the other cytogenetic anomaly were healthy, the abnormal phenotype of the propositus was interpreted as coincidence by chance.
对一名患有先天性多发性关节挛缩症、室间隔缺损和面部畸形的男孩进行细胞遗传学检查，发现可能存在t(Y; 13)(q?; p1)易位，并且在其中一条13号染色体上有三个核仁组织区（NOR）阳性点。后者的变异在母亲家族中可以追踪到，13/Y易位则在父亲的亲属中发现。由于所有受一种或另一种细胞遗传学异常影响的家庭成员都很健康，因此先证者的异常表型被解释为偶然巧合。
