Mental retardation (MR) is defined as an overall intelligence quotient lower than 70,
associated with functional deficit in adaptive behavior, such as daily-living skills, social skills …

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

The underlying cause of mental retardation remains unknown in up to 80% of patients. As
chromosomal aberrations are the most common known cause of mental retardation, several …

A clinically recognizable 9q subtelomeric deletion syndrome has recently been established.
Common features seen in these patients are severe mental retardation, hypotonia …

Mental retardation (MR) occurs in 2%–3% of the general population. Conventional
karyotyping has a resolution of 5–10 million bases and detects chromosomal alterations in∼ …

Background: Chromosomal abnormalities are a major cause of mental retardation and
multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances …

Background: The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by
moderate to severe mental retardation, childhood hypotonia and facial dysmorphisms. In …

We report the identification of six patients with 3q29 microdeletion syndrome. The clinical
phenotype is variable despite an almost identical deletion size. The phenotype includes mild …

Background: A new syndrome has been recognised following thorough analysis of patients
with a terminal submicroscopic subtelomeric deletion of chromosome 9q. These have in …

Recent work has demonstrated an unexpected prevalence of copy number variation in the
human genome, and has highlighted the part this variation may play in predisposition to …