Wolff D J, Raffel L J, Ferré M M, Schwartz S
Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201.
Am J Med Genet. 1991 Dec 1;41(3):319-21. doi: 10.1002/ajmg.1320410311.
Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a normal phenotype or mild and inconsistent abnormalities. The present cases, as well as the review of literature, indicate that duplication 18p is associated with few or inapparent phenotypic abnormalities.
羊膜穿刺术后发现了一条不平衡的18号染色体短臂增加（18p+）的直接两代遗传情况。母亲和孩子均未表现出明显的身体畸形或智力障碍。显带分析提示存在完整的18号染色体短臂重复。分子研究证实了重复物质的18号染色体短臂起源。此前仅报道过14例18号染色体短臂重复的病例，这些病例要么表现出正常表型，要么表现出轻微且不一致的异常。本病例以及文献回顾表明，18号染色体短臂重复与很少或不明显的表型异常相关。
