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NSD1 microdeletions (chromosome 5q35) are the major cause of Sotos syndrome, and occur in some cases of Weaver syndrome. Sotos is a childhood overgrowth characterized by distinctive craniofacial features, advanced bone age, and mental retardation. Weaver syndrome is characterized by the same criteria but has its own specific facial characteristics. Sotos syndrome is inherited in an autosomal dominant manner. While 50% of Sotos patients in Asia are showing a chromosomal microdeletion, only 9% deletion cases are observed in the affected European population. The NSD1 (5q35) region probe is optimized to detect copy numbers of the NSD1 gene region at 5q35.2. The TERT region specific FISH probe at 5p15 is included as control probe.
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