Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …

During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features
of the MECP2 duplication syndrome, including considerations for the care of patients with …

Evidence Report: Genetic and metabolic testing on children with global developmental delay
[RETIRED] Page 1 Evidence Report: Genetic and metabolic testing on children with global …

Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular
elucidation and diagnosis of disorders resulting from genomic copy‐number variation …

Anomalies of chromosome number and structure are considered to be the most frequent
cause of unexplained, non-syndromic developmental delay and mental retardation …

Rett syndrome is an X‐linked neurodevelopmental disorder that manifests in early childhood
with developmental stagnation, and loss of spoken language and hand use, with the …

Duplication at the Xq28 band including the MECP2 gene is one of the most common
genomic rearrangements identified in neurodevelopmentally delayed males. Such …

Structural chromosomal rearrangements can lead to a wide variety of serious clinical
manifestations, including mental retardation (MR) and congenital malformations. Over the …

Objective To evaluate the results of prenatal chromosomal microarray analysis (CMA) on>
1000 fetal samples referred for testing at our institution and to compare these data to …