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What is Chromosome 15q Duplication Syndrome?

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What is Chromosome 15q Duplication Syndrome?

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by Nicole Cleary, M.S.S. IDEAS Executive Director August, 2006 Chromosome 15q duplication syndrome (dup15q) is a clinically identifiable syndrome which results from duplications of chromosome 15q11-13.1 These duplications most commonly occur in one of two forms. These include an extra isodicentric 15 chromosome, abbreviated idic(15), or an interstitial duplication 15. When the extra genetic material comes from the paternal chromosome, a child may have normal development. However, when the duplicated material comes from the maternal chromosome, developmental problems are often the result. In most cases of chromosome 15q duplication syndrome, the chromosome duplication is not inherited, but occurred as a random event during the formation of reproductive cells (eggs and sperm). It is important to acknowledge that there is a wide range of severity in the developmental disabilities experienced by individuals with dup15q syndrome. Two children with the same dup15q chromosome pattern may be v

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Chromosome 15q duplication syndrome (dup15q) is a clinically identifiable syndrome which results from duplications of chromosome 15q11-13. These duplications most commonly occur in one of two forms. These include an extra isodicentric 15 chromosome, abbreviated idic(15), or an interstitial duplication 15. When the extra genetic material comes from the paternal chromosome, a child may have normal development. However, when the duplicated material comes from the maternal chromosome, developmental problems are often the result. In most cases of chromosome 15q duplication syndrome, the chromosome duplication is not inherited, but occurred as a random event during the formation of reproductive cells (eggs and sperm).

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• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. • Chromosome 15q duplication syndrome: Duplication of the long arm of chromosome 15. Some cases have symptoms which are similar to those in Prader-Willi and Angelman syndromes but most exhibit a wide spectrum of manifestations which range from asymptomatic cases to variable combinations of skeletal, neurological, gastrointestinal, psychological, and other abnormalities in association with developmental delay. Phenotypic expression and degree of severe are related to the length of the duplicated segment.

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by Nicole Cleary, M.S.S.. IDEAS … Chromosome 15q duplication syndrome (dup15q) is a clinically identifiable …

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. by Nicole Cleary, M.S.S. IDEAS Executive Director August, 2006 . Chromosome 15q duplication syndrome (dup15q) is a clinically identifiable syndrome which results from duplications of chromosome 15q11-13. 1 These duplications most commonly occur in one of two forms. These include an extra isodicentric 15 chromosome, abbreviated idic(15), or an interstitial duplication 15. When the extra genetic material comes from the paternal chromosome, a child may have normal development.

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