Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference22 articles.
1. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?;Bisgaard;Eur. J. Med. Genet.,2007
2. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay;Burnside;Hum. Genet.,2011
3. A copy number variation morbidity map of developmental delay;Cooper;Nat. Genet.,2011
4. Pathogenic rare copy number variants in community-based schizophrenia suggests a potential role for clinical microarrays;Costain;Hum. Mol. Genet.,2013
5. Ret al Adult neuropsychiatric expression and familial segregation of 2q13 duplications;Costain;Am. J. Med. Genet., Part B: Neuropsychiatric Genetics,2014
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1. Prenatal diagnosis of familial 266-kb 2q13 microquadruplication encompassing MALL and NPHP1 in a pregnancy associated with asymptomatic carrier parent;Taiwanese Journal of Obstetrics and Gynecology;2024-05
2. Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-09-29
3. Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1;Taiwanese Journal of Obstetrics and Gynecology;2022-11
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