10
Jun
chromosome 2q14.3 deletion disrupting CNTNAP5
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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
06
Feb
A small 7p22.3 microdeletion: Case report of SNX8 haploinsufficiency and neurological findings
A small 7p22.3 microdeletion: Case report of SNX8 haploinsufficiency and neurological findings 7p22.3 microdeletion, a small deletion within the short arm of chromosome 7, has been reported in the literature before, but the genotype-phenotype correlation remains uncertain. Clinical features in previous cases include developmental delay, intellectual disability, congenital heart disease,... Read More
