Chromosomal Abnormalities: Genetic Disease Burden in India
Chromosomal Abnormalities: Genetic Disease Burden in India
复制标题
染色体异常：印度的遗传病负担
DOI：
10.1080/09723757.2010.11886079
复制
发表时间：
2010
影响因子：
0.1
通讯作者：
J. Singh
中科院分区：
文献类型：
--
作者：
A. Kaur;J. Singh
染色体异常是常见事件。全球每年至少有760万儿童出生时患有严重的遗传或先天性畸形。很难收集精确的流行率数据，特别是在印度，这是由于情况差异很大，而且许多病例仍未得到诊断。遗传和先天性异常是婴儿和儿童死亡的第二大常见原因，发病率为每1000例出生25-60例。然而，遗传疾病在特定社区的较高流行率可能是由于某些社会或文化因素造成的。
Abstract Chromosomal abnormalities are frequent events. Globally, at least 7.6 million children are born annually with severe genetic or congenital malformations. Precise prevalence data are difficult to collect, especially in India, owing to great diversity of conditions and also because many cases remain undiagnosed. Genetic and congenital abnormality is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors.
使用 DNA 探针对 46,XX 男性和 46,XY 和 46,X,dic(Y) 女性的睾丸确定基因座进行删除作图。
影响因子：
14.9
作者：
Müller,U;Donlon,T;Schmid,M;Fitch,N;Richer,CL;Lalande,M;Latt,SA
通讯作者：
Latt,SA