title: "Down syndrome: an insight of the disease".
abstract: Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer's disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article. Moreover, we have also reviewed various prenatal diagnostic method from karyotyping to rapid molecular methods -  MLPA, FISH, QF-PCR, PSQ, NGS and noninvasive prenatal diagnosis in detail.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India. ambreenasimsiddiqui@gmail.com.
authors.forename: Ambreen
authors.initials: A
authors.lastname: Asim
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India. chemistry.ashok83@gmail.com.
authors.forename: Ashok
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India. srinimbt@gmail.com.
authors.forename: Srinivasan
authors.initials: S
authors.lastname: Muthuswamy
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India. shaluisjain@gmail.com.
authors.forename: Shalu
authors.initials: S
authors.lastname: Jain
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India. saritasgpgi@gmail.com.
authors.forename: Sarita
authors.initials: S
authors.lastname: Agarwal
mesh_terms: D000544:Alzheimer Disease / Q000150:complications / Q000235:genetics; D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000235:genetics; D007621:Karyotyping; D007938:Leukemia / Q000150:complications / Q000235:genetics; D035683:MicroRNAs / Q000235:genetics; D010641:Phenotype; D011296:Prenatal Diagnosis
chemical_list: D035683:MicroRNAs