30
Sep
Deletion 17q12 and the HNF1B gene
0 Comment
The area 17q12 includes a relatively small ~1.5 Mb segment flanked by similar areas of low-copy repeats. The presence of such an area facilitates the so-called non-allelic homologous recombination. As a result this segment is susceptible to deletions (as well as duplications). Deletions of this area are relatively common with... Read More
04
Aug
Deletion 2q34 and the ERBB4 gene
DELETION 2q34 and the ERBB4 gene. Many articles about patients with small deletions in the chromosome 2q34 area who have various neurodevelopmental problems but not serious structural defects have been published in recent years. Detailed examinations showed that all these persons have deletion of the ERBB4 gene, sometimes in association... Read More
27
Aug
Neuropsychiatric problems and chromosome disorders
Psychiatric symptoms found in some patients with chromosome disorders. There is no doubt that genetic factors play a significant role in the origin of schizophrenia and other neuropsychiatric disorders. At the same time, only a few genes are implicated as major factors for the development of these conditions. The authors... 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
