ArticleEuropean journal of human genetics : EJHG2012
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 71 citations in OpenAlex.
- Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array.Molecular biology reports · 2020Trial
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- RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.Brain : a journal of neurology · 2023Article
- 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up.BMC pregnancy and childbirth · 2022Article
- Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.International journal of molecular sciences · 2022Article
- Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome.Frontiers in pediatrics · 2022Article
- Comparative clinical genetic testing in spontaneous miscarriage: Insights from a study in Southern Chinese women.Journal of cellular and molecular medicine · 2021Article
- Clinical and genetic findings in patients with congenital cataract and heart diseases.Orphanet journal of rare diseases · 2021Article
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- Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.NPJ genomic medicine · 2021Article
- Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers.BMC medical genomics · 2021Article
- Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies.Frontiers in genetics · 2021Article
- Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes.Risk management and healthcare policy · 2021Article
- Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes.Scientific reports · 2020Article
- Article
- Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays.Journal of clinical laboratory analysis · 2020Article
- Copy number variations associated with fetal congenital kidney malformations.Molecular cytogenetics · 2020Article
- Next Generation Sequencing Identify Rare Copy Number Variants in Non-syndromic Patent Ductus Arteriosus.Frontiers in genetics · 2020Article
- KRAS status is related to histological phenotype in gastric cancer: results from a large multicentre study.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2019Article
- Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned.Molecular medicine reports · 2019Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The correct interpretation of copy number gains in patients with developmental delay and multiple congenital anomalies is hampered by the large number of copy number variations (CNVs) encountered in healthy individuals. The variable phenotype associated with copy number gains makes interpretation even more difficult. Literature shows that inheritence, size and presence in healthy individuals are commonly used to decide whether a certain copy number gain is pathogenic, but no general consensus has been established. We aimed to develop guidelines for interpreting gains detected by array analysis using array CGH data of 300 patients analysed with the 105K Agilent oligo array in a diagnostic setting. We evaluated the guidelines in a second, independent, cohort of 300 patients. In the first 300 patients 797 gains of four or more adjacent oligonucleotides were observed. Of these, 45.4% were de novo and 54.6% were familial. In total, 94.8% of all de novo gains and 87.1% of all familial gains were concluded to be benign CNVs. Clinically relevant gains ranged from 288 to 7912 kb in size, and were significantly larger than benign gains and gains of unknown clinical relevance (P < 0.001). Our study showed that a threshold of 200 kb is acceptable in a clinical setting, whereas heritability does not exclude a pathogenic nature of a gain. Evaluation of the guidelines in the second cohort of 300 patients revealed that the interpretation guidelines were clear, easy to follow and efficient.
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