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Genetic and Clinical Characteristics of Chromosome 15q11-q13 Duplication Syndrome in Chinese Children.

American journal of medical genetics. Part A - 1 Jul 2026

Liu Ruo-Yan, Wu Yu-Jia, Zou Chao-Chun

Abstract excerpt

To enhance the diagnosis, management, and monitoring of Chinese children with chromosome 15q11-q13 duplication syndrome (dup15q) by analyzing their genetic and clinical characteristics. In this study, one Chinese prenatal case and 21 postnatal cases genetically diagnosed with dup15q syndrome underwent a detailed assessment of genetic and clinical characteristics. Most patients had normal prenatal (12/22, 54.5%)...

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Autism Spectrum Disorder
Chromosome Duplication
Chromosomes, Human, Pair 15
Developmental Disabilities
East Asian People

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Prenatal Diagnosis

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PMID: 41730779
DOI: 10.1002/ajmg.a.70100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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