García González P, Pedraz García C, Merino Marcos L, Salazar Veloz J, Escudero Bueno G, Salazar Villalobos V
An Esp Pediatr. 1983 Feb;18(2):113-7.
Two patients with partial deletion of the short arm of number 4 chromosome are reported and their phenotypes and genetic characteristics are discussed. The genetic work up of both patients are compared concluding that a deletion of a part of the short arm of one of the 4th pair respective of the chromosome segment which is missing, is sufficient to produce this syndrome.
报告了两名4号染色体短臂部分缺失的患者,并讨论了他们的表型和遗传特征。对两名患者的基因检查结果进行了比较,得出结论:第4对染色体中其中一条短臂的一部分缺失,即相应缺失的染色体片段,足以产生这种综合征。