Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L
Biologia Generale e Genetica Medica, University of Pavia, Italy.
J Med Genet. 1988 Mar;25(3):173-80. doi: 10.1136/jmg.25.3.173.
Instability of the heterochromatic centromeric regions of chromosomes 1, 9, and 16 associated with immunodeficiency was found in a four year old girl. Similar phenotypic and chromosomal abnormalities were described in a previous patient studied by us and in four other published cases. All these patients have facial anomalies in addition to combined immunodeficiency and chromosomal instability. Stretching of the heterochromatic centromeric regions of chromosomes 1, 16, and to a lesser extent, 9 and homologous and non-homologous associations of these regions were the most common cytogenetic findings in all the patients. Multi-branched configurations and whole arm deletions of chromosomes 1 or 16 or both were also found. Comparing clinical and chromosomal data we conclude that immunodeficiency, centromeric heterochromatin instability, and facial anomalies form a new syndrome, for which we propose the acronym ICF. A mutation interfering with the normal process of condensation of part of the centromeric heterochromatin is postulated as the basic chromosome defect in this syndrome.
在一名4岁女童中发现1号、9号和16号染色体异染色质着丝粒区域的不稳定性与免疫缺陷相关。我们之前研究的一名患者以及其他4例已发表病例中也描述了类似的表型和染色体异常。所有这些患者除了合并免疫缺陷和染色体不稳定性外，还存在面部异常。1号、16号染色体异染色质着丝粒区域的伸展，以及程度较轻的9号染色体异染色质着丝粒区域的伸展，以及这些区域的同源和非同源联合，是所有患者中最常见的细胞遗传学发现。还发现了1号或16号或两者的多分支构型和整条臂缺失。比较临床和染色体数据后，我们得出结论，免疫缺陷、着丝粒异染色质不稳定性和面部异常构成一种新综合征，我们为此提出首字母缩写词ICF。推测该综合征的基本染色体缺陷是一种干扰部分着丝粒异染色质正常凝聚过程的突变。
