Chromosomal mosaicism in prenatal diagnosis: a problem still unsolved.

Acta Universitatis Carolinae. Medica Pub Date : 1992-01-01
S Kerber, K R Held
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Abstract

The problems in differentiating chromosomal mosaicism from pseudomosaicism after amniocentesis and CVS are demonstrated in 6 cases. Two cases of true mosaicism (45, X/46, XX and 46, XY/47, XXY) were of clinical relevance. In both cases the aberrant cell line was less expressed in amniotic fluid cells than in fetal blood and cultivated fibroblasts. Two cases of pseudomosaicism (chromosome 2 and chromosome 10 trisomy) originated either from preexisting mutants or from in vitro mutations whereas a case of true chromosome 20 mosaicism indicated the possibility of a mosaic confined to a single fetal tissue. The problems of interpreting mosaicism after CVS is illustrated in a 45, X/46, XY case, in which the abnormal cell line was detectable only in extrembryonic tissue.

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染色体镶嵌在产前诊断:一个尚未解决的问题。
本文对6例羊膜穿刺术和CVS术后染色体嵌合体与假染色体嵌合体的鉴别问题进行了分析。2例真嵌合(45,X/46, XX和46,XY/47, XXY)具有临床相关性。在这两种情况下,异常细胞系在羊水细胞中的表达都低于在胎儿血液和培养成纤维细胞中的表达。2例假染色体嵌合体(2号染色体和10号染色体三体)起源于先前存在的突变体或来自体外突变,而1例真正的20号染色体嵌合体表明嵌合体可能局限于单个胎儿组织。在45,X/46, XY病例中解释CVS后嵌合现象的问题,其中异常细胞系仅在极胚组织中检测到。
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