25
Jan
Chromosome 6p22-p24 deletion JARID2 gene mutation
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Chromosome 6p22-p24 deletion JARID2 gene mutation. Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). The loss of the JARID2 gene located at 6p22.3 was considered to be the most reliable cause of ID, but this proposal had to be confirmed. The authors examined 16... Read More
14
Nov
Neuropsychiatric phenotypes and ASD features in 3q29 deletion syndrome
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry The phenotype of 3q29 deletion syndrome is characterized mainly by neurodevelopmental and psychiatric features. Usually this syndrome is caused by a de novo deletion, typically 1.6 Mb, on chromosome 3. Although, it... Read More
