Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is
associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that …

Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …

Purpose: An accurate accounting of persons with Down syndrome (DS) has remained
elusive because no population-based registries exist in the United States. The purpose of …

We aimed to estimate the nonselective live birth prevalence, actual live birth prevalence,
reduction percentage because of selective terminations, and population prevalence for …

Down syndrome, caused by trisomy of chromosome 21, is the single most common risk
factor for early-onset Alzheimer's disease. Worldwide approximately 6 million people have …

Background Common fetal aneuploidies include Down syndrome (trisomy 21 or T21),
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …

Background Down syndrome (DS) is associated with variable intellectual disability and
multiple health and psychiatric comorbidities. The impact of such comorbidities on cognitive …

Introduction Congenital anomalies (CAs) are a major cause of infant mortality, childhood
morbidity and long-term disability. Over 130 000 children born in Europe every year will …

The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and
the prevalence of associated anomalies. Twenty‐five population‐based registries in 16 …

Amyloid precursor protein (APP) is a member of the APP family of proteins, and different
enzymatic processing leads to the production of several derivatives that are shown to have …