Hou Jia-Woei
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, ROC.
Chang Gung Med J. 2003 Jan;26(1):48-52.
Derivative 22 [der(22)] syndrome is a rare disorder associated with multiple congenital anomalies including pre-auricular skin tags or pits, conotruncal heart defects, and profound mental retardation. Der(22)t(11;22) is one of the causes of supernumerary chromosome markers (mar) in humans. We present a boy with developmental delay and multiple anomalies consistent with the supernumerary der(22) syndrome. Cytogenetic analysis showed an abnormal chromosome complement of 47, XY, +mar in all 50 cells analyzed. The karyotype of his mother showed a reciprocal translocation over the distal bands 11q23 and 22q11, respectively, i.e., 46,XX,t( 11;22)(q23.3;q11.2), and that of his father was 46,XY. Thus, the nature of the supernumerary chromosome markers was of der(22)t(11 ;22)(q23.3;q11.2). The clinical features, including craniofacial dysmorphism, hypotonia, psychomotor retardation, heart defects, and urogenital anomalies, were the combined effects of partial trisomies for both distal 11q and pericentromeric 22q.
衍生 22 号染色体 [der(22)] 综合征是一种罕见的疾病，与多种先天性异常有关，包括耳前皮肤赘生物或耳前凹、圆锥动脉干心脏缺陷和严重智力迟钝。Der(22)t(11;22) 是人类额外染色体标记物 (mar) 的原因之一。我们报告一名患有发育迟缓及多种异常的男孩，这些异常与额外的 der(22) 综合征相符。细胞遗传学分析显示，在所有 50 个分析细胞中，染色体组成为异常的 47, XY, +mar。他母亲的核型显示分别在 11q23 和 22q11 远端带存在相互易位，即 46,XX,t(11;22)(q23.3;q11.2)，他父亲的核型为 46,XY。因此，额外染色体标记物的性质为 der(22)t(11;22)(q23.3;q11.2)。临床特征，包括颅面畸形、肌张力减退、精神运动发育迟缓、心脏缺陷和泌尿生殖系统异常，是 11q 远端和 22q 着丝粒周围部分三体的综合影响。
