Vivarelli R, Paolieri M, Anichini C, Scarinci R, Berardi R, Rosaia L, Pucci L
Clinica Pediatrica dell'Università di Siena.
Boll Soc Ital Biol Sper. 1992 Apr;68(4):263-9.
Five cases with different abnormalities of chromosome 18 are described: one case with trisomy 18, two cases with ring 18, one case with partial trisomy 18q and one case with a mosaic 18p-/iso 18q. The karyotypes of the parents were normal. Cytogenetic analysis was performed on PHA stimulated blood lymphocytes. GTG, QFQ, MTX banding techniques were used. Karyotype-phenotype correlations are made. All patients present mental retardation, hypotonia and facial dismorphisms. The different degree of mental retardation and the clinical signs are in relation to the different size of deletions or trisomies of the short or long arm of chromosome 18. In the case with mosaicism 18p-/iso18q the phenotype is determined from the chromosomal abnormality more frequent in the cells (18p-).
本文描述了5例18号染色体存在不同异常的病例：1例18三体综合征，2例18号环状染色体，1例18q部分三体，1例18p- / iso 18q嵌合体。父母的核型正常。采用PHA刺激的血液淋巴细胞进行细胞遗传学分析。使用了GTG、QFQ、MTX显带技术。进行了核型-表型相关性分析。所有患者均表现出智力发育迟缓、肌张力低下和面部畸形。智力发育迟缓的不同程度和临床体征与18号染色体短臂或长臂缺失或三体的不同大小有关。在18p- / iso18q嵌合体病例中，表型由细胞中更常见的染色体异常（18p-）决定。
