16
Aug
Population prevalence of copy number variants (CNVs)a first glimpse
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Estimates of the population prevalence and inheritance patterns of recurrent copy number variants (CNVs) associated with neurodevelopmental disorders are lacking. This article presents a first glimpse. It is well known that chromosome microdeletions or microduplications in several areas (1q21.1, 3q29, 15q11, 15q13, 16p11.2, etc) are associated with a wide range... Read More
04
Aug
NF1 microdeletions and mutations gene location chromosome 17q11.2
Neurofibromatosis type 1 (NF1) is a hereditary syndrome. The main manifestations of this condition include café-au-lait spots, Lisch nodules and neurofibromas. It occurs in 1 to every 2000-3000 people. In most patients NF1 is caused by mutations of the NF1 gene, located at 17q11.2. However, 5-11% of patients have deletions... Read More
22
Jul
Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 – Candidate Genes
Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 – Candidate Genes Ring chromosomes are rare chromosomal abnormalities in which the long arm of the chromosome has been fused with the short arm. This often results in deletions and duplications of the chromosome. Ring Chromosome 20... Read More
10
Jun
chromosome 2q14.3 deletion disrupting CNTNAP5
2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. The contactin-associated proteins (CNTNAP) are a subgroup of the neurexin family, predominantly expressed in the central nervous system (CNS). These genes are essential in neurodevelopment and appropriate CNS functioning; contributing to neuron excitation, signaling, conduction,... Read More
06
Jun
22q11.2 deletion syndrome and congenital heart disease
22q11.2 deletion syndrome and congenital heart disease. 22q11.2 deletion syndrome is the most common microdeletion syndrome with a variable range of clinical features, including cardiac abnormalities. This paper examines the prevalence, identification, outcomes, and clinical management of congenital heart defects (CHD) in patients with 22q11.2 deletion syndrome. The prevalence of... Read More
