Prenatal diagnosis of familial 266-kb 2q13 microquadruplication encompassing MALL and NPHP1 in a pregnancy associated with asymptomatic carrier parent
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Published:2024-05
Issue:3
Volume:63
Page:424-425
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ISSN:1028-4559
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Container-title:Taiwanese Journal of Obstetrics and Gynecology
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language:en
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Short-container-title:Taiwanese Journal of Obstetrics and Gynecology
Reference6 articles.
1. Segmental duplications mediate novel, clinically relevant chromosome rearrangements;Rudd;Hum Mol Genet,2009
2. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism;Yu;Clin Genet,2012
3. Adult neuropsychiatric expression and familial segregation of 2q13 duplications;Costain;Am J Med Genet B Neuropsychiatr Genet,2014
4. Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder;Chen;Taiwan J Obstet Gynecol,2017
5. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications;Wolfe;Am J Med Genet B Neuropsychiatr Genet,2018