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Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene.In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent.ost cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
Who Discovered Down Syndrome. Down syndrome is a chromosomal disorder that produces a set of mental and physical symptoms. It is caused by an extra copy of chromosome 21. In a person with Down syndrome there are three copies of the chromosome 21, one from the father, one from the mother and a third copy.The extra copy of this chromosome changes the development of the brain and body.Down syndrome affects about 1 in every 800 babies.r Down could not identify what caused the condition and it was not until 1959 that a Professor named Jerome JÃ©rome lejeune discovered That down syndrome was caused by a chromosomal. Irregularity he found that in people With down syndrome an extra chromosome was. present