22
Jul
Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 – Candidate Genes
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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
08
Feb
Common neuropsychiatric features in 22q11.2 deletion syndrome
Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome 22q11.2 deletion is one of the most common microdeletion syndromes. The clinical features of this condition are broad and highly variable across physical, developmental, and mental health domains. This article analyzes neurological and psychiatric characteristics... Read More
08
Feb
Chromosome 5q34-q35.2 microdeletion and congenital heart disease
An adult female with chromosome 5q34-q35.2 microdeletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease Microdeletions in the distal segment of chromosome 5q have rarely been reported in the literature with less than 20 published cases. Common features that have been identified in distal 5q... Read More
