Lalchev S, Tzancheva M, Markova R
Hum Genet. 1978 Dec 18;45(2):219-23. doi: 10.1007/BF00286967.
A 2-year-old girl with a prabable trisomy-22 translocation is described. The principal clinical symptoms described by the authors who have reported cases with proved trisomy 22 are presented. A probable 46,XX,-21,+t(21q;22q) karyotype was established in the patient. The proband's clinical picture is compared with other trisomy 22 cases described in the literature. The incidence of this trisomy among the human population is discussed.
本文描述了一名可能患有22号染色体易位三体综合征的2岁女童。文中呈现了报告过22号染色体三体综合征确诊病例的作者所描述的主要临床症状。该患者确定为可能的46,XX,-21,+t(21q;22q)核型。将先证者的临床症状与文献中描述的其他22号染色体三体病例进行了比较。并讨论了该三体在人群中的发病率。
