Cherstvoĭ E D, Laziuk G I, Lur'e I V, Ostrovskaia T I, Shved I A
Arkh Patol. 1984;46(4):39-45.
Morphological study, with no selection, is performed of 1106 stillborns and children died before one year of age with congenital malformations (CM), 536 (46.9 +/- 1.5%) among them having multiple CM. Syndrome diagnosis is made in 44.1 +/- 2.1% cases: in 26.9 +/- 1.9% among them these were syndromes of chromosomal and in 17.9 +/- 1.7% syndromes of non-chromosomal etiology. Monogenic hereditary forms among non-chromosomal syndromes were in 42.1 +/- 4.8%. Comparative analysis of frequency and types of CM of various systems in monogenic and chromosomal syndromes and unclassified CM showed that the monogenic syndromes by their phenotypic manifestations are close to the chromosomal syndromes. The uniformity of alterations of certain morphological structures in these syndromes appear to be the consequence of common ways of realisation of both mutant genes in monogenic syndromes and their imbalance in chromosomal syndromes.
对1106例死产儿和1岁前死亡的患有先天性畸形（CM）的儿童进行了无选择的形态学研究，其中536例（46.9±1.5%）患有多种先天性畸形。44.1±2.1%的病例做出了综合征诊断：其中26.9±1.9%为染色体综合征，17.9±1.7%为非染色体病因综合征。非染色体综合征中的单基因遗传形式占42.1±4.8%。对单基因综合征、染色体综合征和未分类先天性畸形中各系统先天性畸形的频率和类型进行比较分析表明，单基因综合征在表型表现上与染色体综合征相似。这些综合征中某些形态结构改变的一致性似乎是单基因综合征中突变基因实现的共同方式及其在染色体综合征中失衡的结果。
