Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Indian J Pediatr. 2010 Mar;77(3):277-81. doi: 10.1007/s12098-010-0033-1. Epub 2010 Feb 22.
Pediatricians deal with cases with the congenital malformations and malformation syndromes interest many of them. A lot of information about genes involved in development is available now. Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of malformations: how it is studied and what is known. Genetic and chromosomal defects are often associated with congenital malformations. Polydactyly is one of the commonly seen malformations and genetic defects of many malformation syndromes associated with polydactyly are known. The role of genetic defect in polydactyly syndromes and the correlation between genotypes and phenotypes is discussed in this review article.
儿科医生处理先天畸形和感兴趣的畸形综合征的病例。现在有很多关于参与发育的基因的信息。本文以手发育的遗传学和多指畸形综合征相关的基因为例,探讨畸形的遗传学:如何研究以及了解什么。遗传和染色体缺陷常与先天畸形有关。多指畸形是常见的畸形之一,已知许多与多指畸形相关的畸形综合征都存在遗传缺陷。本文综述了遗传缺陷在多指畸形综合征中的作用以及基因型与表型之间的相关性。