Chromosome 15q11-Q13 Duplication Syndrome

Chromosome 15q11-Q13 Duplication Syndrome(来自ICD-11)

别称:

15q11q13 Microduplication Syndrome

Duplication 15q11-Q13 Syndrome

Isodicentric Chromosome 15 Syndrome

15q11-Q13 Duplication Syndrome

15q11q13 Duplication Syndrome

Duplication/inversion 15q11

Isodicentric Chromosome 15

Non-Distal Tetrasomy 15q

Autism Susceptibility 4

Inverted Duplication 15

Trisomy 15q11q13

Dup15q Syndrome

Dup(15)(q11q13)

Inv Dup(15)

Idic(15)

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chromosome 15q11-Q13 Duplication Syndrome, also known as 15q11q13 microduplication syndrome, is related to prader-willi syndrome and angelman syndrome. An important gene associated with Chromosome 15q11-Q13 Duplication Syndrome is UBE3A (Ubiquitin Protein Ligase E3A). The drugs Fenfluramine and Stiripentol have been mentioned in the context of this disorder. Affiliated tissues include testes and skin, and related phenotypes are intellectual disability and hypotonia

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