01
Sep
Chromosome 10p microdeletion symptoms
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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
11
Aug
Chromosome 7q11.23 deletion and duplication
Chromosome 7q11.23 deletions and duplications cause different symptoms. Segment 7q11.23 contains 25-27 genes. Both deletions and duplications of this segment are known to cause different disorders. Deletions of 7q11.23 cause (a well-recognized) Williams syndrome; duplication of 7q11.23 cause a wide range of clinical manifestations that are hard to recognize... Read More
04
Aug
8q24 deletion and clinical significance
Sometimes a chromosomal microarray analysis (CMA) shows relatively large deletions or duplications of chromosomal material, but the clinical significance of these abnormalities remains unclear. This situation is especially important upon prenatal diagnosis when a fetus does not have any visible defects, or when only minor abnormalities are found. The authors... Read More
