We review the contributions and limitations of genome-wide array-based identification of
copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental …

Background Increased secretion of growth hormone leads to gigantism in children and
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …

Disruptions of genes that are involved in epigenetic functions are known to be causative for
several mental retardation/intellectual disability (MR/ID) syndromes. Recent work has …

Intellectual disability affects approximately 1–3% of the population and can be caused by
genetic and environmental factors. Although many studies have investigated the etiology of …

Background: The concept of “chromosomics” was introduced by Prof. Uwe Claussen in
2005. Herein, the growing insights into human chromosome structure finally lead to a …

Background: Cytogenetically visible chromosomal imbalances in humans are deleterious
and adverse in the majority of the cases. However, healthy persons living with chromosomal …

Background Nowadays the microarray technology allows whole-genome analysis with a
high resolution and performance for the genetic diagnosis in any patient with intellectual …

Background: The majority of small supernumerary marker chromosomes (sSMCs) are
derived from one single chromosome. Complex sSMCs instead consist of two to three …

Background Microarray analysis has been used as the first-tier genetic testing to detect
chromosomal imbalances and copy number variants (CNVs) for pediatric patients with …

Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that
affect< 1 in 2000 individuals, and most have a genetic component. The diagnostic process is …