02
Dec
EPHA7 gene located at 6q16.1 is associated with a neurodevelopmental disorder
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EPHA7 gene located at 6q16.1 is associated with a neurodevelopmental disorder The ephrin receptor A7 (EPHA7) is one of the genes involved in the formation of dendrites during brain development. This gene is located at 6q16.1. Only one child with a deletion of this gene has been reported so... Read More
01
Sep
Smith-Magenis syndrome and new cardiac findings
This article discusses Smith-Magenis syndrome along with new functional cardiac findings and a review of the literature. It is known that some patients with Smith-Magenis syndrome (SMS) have congenital heart disease (CHD), but detailed examination of the cardiac function in SMS patients has not been performed. The authors examined 24... Read More
01
Sep
Chromosome 10p microdeletion symptoms
Article describes chromosome 10p microdeletion symptoms in a newborn child. Also includes discussion of HDR syndrome and the loss of the GATA3 gene. Association of hypoparathyroidism, hearing impairment and renal defects is known as Barakat syndrome (or HDR syndrome). This condition is caused by the deletion or mutation of... Read More
27
Aug
Clinical characterization of individuals with the distal 1q21.1 microdeletion
Clinical characterization of individuals with the distal 1q21.1 microdeletion is described in this summary. Deletions of the 1q21.1 segment may be subdivided into two groups: proximal (located in the interval of 144.9-146.2 Mb) and distal (~146.4-148.8 Mb). Proximal del 1q21.1 in the presence of modifying variant in RBM8A leads to... 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
