Histone methylation can occur at various sites in histone proteins, primarily on lysine and
arginine residues, and it can be governed by multiple positive and negative regulators, even …

The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active
scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D …

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

Kleefstra syndrome is characterized by the core phenotype of developmental
delay/intellectual disability,(childhood) hypotonia and distinct facial features. The syndrome …

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

Please cite this paper as: Lee C, Lin S, Lin C, Shih J, Lin T, Su Y. Clinical utility of array
comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 …

Objective To evaluate the use of array comparative genomic hybridization (aCGH) for
prenatal diagnosis, including assessment of variants of uncertain significance, and the …

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

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

Craniosynostosis is a very heterogeneous group of disorders, in the etiology of which
genetics play an important role. Chromosomal alterations are important causative …