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Charge syndrome and aggressive behavior10/13/2023 ![]() It is noted that most deletions occur “de novo” - 90%, about 10% occur as a result of translocations in parents (1: 2 - male: female). Deletion sizes range from small terminal to occupying about half of the distal part of the short arm. ![]() In 80% of newborns suffering from it, the cytological basis of this syndrome is a deletion of the short arm of the 4th chromosome. The average life expectancy is up to about 30 years (in Russia, the maximum life expectancy is 25 years), with severe heart defects, kidneys can be no more than one year. Wolff-Hirschhorn syndrome is a syndrome caused by a genetic disease. The frequency of this syndrome is 1: 50,000 births. Symptoms may vary depending on the size of the deletion. The behavior is characterized by a quick-tempered temper, aggression towards others, self-harming behavior, and some children have autistic features. Children have a mental retardation (from moderate to severe), speech is severely affected (some patients know only a few words). It is characterized by malformations, mental retardation, growth retardation, hypotension, seizures, speech retardation, hearing and vision impairment, craniofacial dysmorphisms, among which microcephaly, small, deep-set eyes, flat nose and nose, low-set small ears, small a mouth with lowered corners, a pointed chin, facial asymmetry and a large, late-closing fontanel. Chromosome 1p36 deletion syndrome (1p36 monosomy) is an autosomal dominant disease caused by terminal deletion of the short arm of chromosome 1. The frequency of the disease is 1: 5000 newborns. IGR Medical Center provides the widest research panel in Ukraine on microdeletion diseases. Today, the variety of diagnostic methods is constantly increasing and, accordingly, the ability to identify many diseases is becoming more accessible. ![]() Previously, most microdeletion syndromes were described as pathologies of unknown origin and were not even associated with “chromosomal breakdowns”, since it was not possible to conduct subtle and accurate genetic diagnostics. These diseases are caused by deletion of loss) of small chromosome regions, which are often not noticeable in standard cytogenetic analysis. Microdeletion syndromes are an extensive group of diseases affecting various organs and systems.
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