"Down syndrome: an insight of the disease".

Ambreen Asim,Sarita Agarwal,Ashok Kumar,Shalu Jain,Srinivasan Muthuswamy

doi:10.1186/s12929-015-0138-y

Ambreen Asim, Sarita Agarwal + Show 3 more

Open Access

https://doi.org/10.1186/s12929-015-0138-y

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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.

Highlights

Down syndrome is one of the most leading causes of intellectual disability and millions of these patients face various health issues including learning and memory, congenital heart diseases(CHD), Alzheimer’s diseases (AD), leukemia, cancers and Hirschprung disease(HD)
The primary goal of this review is to unravel the common genes involved in Down syndrome (DS) associated phenotypes, including APP, BACE2, PICALM, APOE, GATA 1, JAK 2, CRELD 1 and Down syndrome cell adhesion molecule (DSCAM)
Rapid aneuploidy testing has been introduced in mid 1990’s in the form of FISH where testing can be done on uncultured amniocytes

Summary

Introduction

Down syndrome is one of the most leading causes of intellectual disability and millions of these patients face various health issues including learning and memory, congenital heart diseases(CHD), Alzheimer’s diseases (AD), leukemia, cancers and Hirschprung disease(HD). The incidence of trisomy is influenced by maternal age and differs in population (between 1 in 319 and 1 in 1000 live births) [1,2,3,4,5]. Trisomic fetuses are at elevated risk of miscarriages and DS people have increased incidence of developing several medical conditions [9]. Recent advancement in medical treatment with social support has increased the life expectancy for DS population. The average life span for DS population is 55 years [10]

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