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Latest Research Articles

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...
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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...
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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...
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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...
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