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[早产儿染色体核型异常]

[Anomalies in the karyotypes of premature children].

作者信息

Kuleshov N P, Midian S A, Chebotarev A N

出版信息

Genetika. 1975;11(10):111-6.

PMID:131737
Abstract

A cytogenetic investigation of two groups of prematurely born babies was carried out on the basis of the specialized department for prematurely born children in Moscow and in the Moscow Region. The material for this investigation was the culture of lymphocytes. In the first group comprising 607 prematurely born babies without any perceptible developmental defects abnormalities of the karyotype were observed in 15 probands (2.5%) which is 3.5 times higher than the frequency of karyotypic abnormalities among newborn babies from the same population born in proper time. In the second group comprising 70 prematurely born babies with various congenital malformations various karyotypic abnormalities were observed in 13 probands (18,6%), which is 8 times the frequency among babies from the same population born in proper time. The main type of abnormalities observed were those affecting the system of sex chromosomes and the cases of trisomy of the 21st pair of autosomes and structural abnormalities. The high proportion of X- and 21-trisomies among the chromosome abnormalities observed suggests their important role in the etiology of premature births and postnatal death-rate of mutant organisms having D- and E-trisomies and structurally unbalanced chromosomal aberrations.

摘要

在莫斯科和莫斯科地区的早产儿专科部门的基础上,对两组早产儿进行了细胞遗传学调查。该调查的材料是淋巴细胞培养物。在第一组607名无明显发育缺陷的早产儿中,15名先证者(2.5%)观察到核型异常,这比同一人群中足月出生的新生儿核型异常频率高3.5倍。在第二组70名患有各种先天性畸形的早产儿中,13名先证者(18.6%)观察到各种核型异常,这是同一人群中足月出生婴儿频率的8倍。观察到的主要异常类型是影响性染色体系统的异常、第21对常染色体三体病例和结构异常。在所观察到的染色体异常中,X和21三体的高比例表明它们在早产病因以及具有D和E三体及结构不平衡染色体畸变的突变生物体的出生后死亡率中起重要作用。

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