Category genetic diseases

Sotos syndrome by A.Griguolo
genetic diseases

Sotos syndrome by A.Griguolo

Generality Sotos syndrome is a rare genetic disorder characterized by excessive skeletal growth, craniofacial anomalies, mental retardation, motor problems and behavioral problems. Due to the mutation of the NSD1 gene, Sotos syndrome is a condition acquired during embryonic development, in more than 90% of cases, and a hereditary condition, in the percentage of remaining cases; therefore, it is almost always the result of a new mutational event

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genetic diseases

Symptoms Klinefelter syndrome

Related articles: Klinefelter syndrome Definition Klinefelter syndrome is one of the most common forms of aneuploidy (ie an anomaly in the number of chromosomes). This disease, in particular, is characterized by the presence of additional copies of the genes present on the X chromosome, which interfere with normal male sexual development
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genetic diseases

Symptoms Trisomy 13

Related articles: Trisomy 13 Definition Trisomy 13 is a genetic disease caused by the presence of a supernumerary chromosome 13, which involves a series of malformations of the baby's organs. This pathology is found in about 1 case every 8, 000-15, 000 newborns. Most cases of trisomy 13 occur in an absolutely random manner, as this syndrome has a low hereditary character
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