Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

Dupont, Céline; Grati, Francesca Romana; Choy, Kwong Wai; Jaillard, Sylvie; Toutain, Jérôme; Maurin, Marie‐Laure; Martínez-Conejero, José Antonio; Bénéteau, Claire; Coussement, A.; Molina-Gomès, Denise; Horelli‐Kuitunen, Nina; Aboura, Azzedine; Tabet, Anne‐Claude; Besseau-Ayasse, Justine; Bessières-Grattagliano, Bettina; Simoni, Giuseppe; Ayala, G.L.; Benzacken, Brigitte; Vialard, François

doi:10.1002/pd.4478

Cited by 25 publications

(31 citation statements)

References 30 publications

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“…The 22q11 microdeletion occurs de novo in the majority of patients, while the 22q11 microduplication is, in the majority of cases, inherited from a clinically asymptomatic parent . This opposite behavior is likely attributable to clinical and technical biases of ascertainment, i.e.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Grati¹,

et al. 2015

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The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.

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Section: Discussionmentioning

confidence: 99%

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Grati¹,

et al. 2015

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“…However, the prevalence of renal and urogenital anomalies, developmental delays, cognitive impairments, and behavioral problems in central 22q11.2 deletion carriers seem to be as equally frequent as in carriers with the common 22q11.2 deletion . The 22q11.2 duplication (Chromosome 22q11.2 microduplication syndrome, MIM: 608363) had features overlapping the 22q11.2 deletion syndrome, but it is distinguished by mental retardation/learning difficulties (97%) being its most common symptoms . All the detected pathogenic CNVs have broad spectrums of phenotypes, many of which cannot be ascertained by prenatal ultrasonograph, emphasizing the necessity of prenatal genetic analysis.…”

Section: Discussionmentioning

confidence: 99%

Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling

Zhu

Wang

et al. 2016

Prenat Diagn

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“… There are very few case reports of copy number variants (CNVs) detected by CMA in the literature for NIHF cases, and many of the reported CNVs could have been detected by karyotype. Examples of CNVs reported with NIHF that would only be detected by CMA include 22q11.2 microdeletion or microduplication syndromes, 16p13.3 microdeletion with alpha thalassemia, 11p15.4 microdeletion with εγδβ‐thalassemia, 20p12.3 microduplication with Wolff‐Parkinson‐White syndrome, 1p12p21 microdeletion with congenital diaphragmatic hernia, and 3q29 microduplication and 15q24.3 microdeletion with cardiac dysfunction …”

Section: Introductionmentioning

confidence: 99%

Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis

et al. 2020

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Purpose Chromosomal microarray (CMA) is recommended in the diagnostic evaluation of cases with fetal structural anomalies when invasive testing is pursued. However, the utility of CMA for nonimmune hydrops fetalis (NIHF) specifically is not well known. Our objective was to describe the overall yield of CMA in the diagnostic evaluation of NIHF, comparing isolated cases to those with concurrent structural anomalies. Methods This was a retrospective cohort study of all prenatally diagnosed NIHF cases evaluated at the University of California, San Francisco from 2008 to 2018. NIHF due to twin‐twin transfusion syndrome was excluded. Results There were 131 cases of prenatally diagnosed NIHF. In 43/44 cases with a CMA performed, results were categorized as normal or likely benign. One case was found on CMA to have a large pathogenic duplication of 21p11.2q22.3, which could have been detected by karyotype and was consistent with a diagnosis of Down syndrome. There was no incremental yield demonstrated for CMA over karyotype. Conclusions Among a cohort of prenatally diagnosed NIHF cases, CMA did not identify any copy number variants beyond those detectable by karyotype, and the vast majority of CMAs were normal. These results suggest that CMA has low diagnostic utility for NIHF.

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Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

Cited by 25 publications

References 30 publications

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling

Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis

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