Kawame H, Sugio Y, Fuyama Y, Hayashi Y, Suzuki H, Kurosawa K, Maekawa K
Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center, Japan.
J Hum Genet. 1999;44(4):219-24. doi: 10.1007/s100380050147.
We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and pons. Cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.
我们报告了一名患有多种先天性异常和嵌合型异倍体的男婴；嵌合型异倍体是一种罕见的细胞遗传学异常，其特征是涉及许多不同染色体的几种不同非整倍体的嵌合现象。他有产前生长迟缓、小头畸形、面容畸形、癫痫发作、肌张力低下、喂养困难和发育迟缓。此外，他还患上了双侧肾母细胞瘤。神经放射学检查显示有Dandy-Walker畸形以及大脑半球和脑桥发育不全。细胞遗传学分析显示，血液淋巴细胞、成纤维细胞和骨髓细胞中存在各种多重数量非整倍体，同时伴有早发性着丝粒分裂（PCD）。对其父母外周血染色体分析也显示有PCD，但无非整倍体细胞。患者的临床表型和多重非整倍体可能是其从父母那里遗传的纯合PCD性状的结果。与先前报道的多重非整倍体病例相比，提示伴有PCD的嵌合型异倍体可能是一种临床上可识别的综合征，主要表型为智力迟钝、小头畸形、脑部结构异常（包括Dandy-Walker畸形）以及可能的癌症易感性。
