2011
DOI: 10.1002/ajmg.a.34043
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Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

Abstract: Detection of chromosomal structural abnormalities using conventional cytogenetic methods poses a challenge for prenatal genetic counseling due to unpredictable clinical outcomes and risk of recurrence. Of the 1,726 prenatal cases in a 3-year period, we performed oligonucleotide array comparative genomic hybridization (aCGH) analysis on 11 cases detected with various structural chromosomal abnormalities. In nine cases, genomic aberrations and gene contents involving a 3p distal deletion, a marker chromosome fro… Show more

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Cited by 29 publications
(29 citation statements)
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“…Among the non-acrocentric marker chromosomes collected in our series, the SMC characterization revealed breakpoints within pericentromeric noncritical regions in two cases [4,14-16,20,22,33,34], consistent with the observation that the corresponding patients (3 and 15) had normal phenotypes (Figures 2A–C and 3A–D, Additional file 2: Table S2). Notably, the association of sSMC(2) and sSMC(18) observed in patient 15 has not been previously reported.…”
Section: Discussionsupporting
confidence: 86%
“…Among the non-acrocentric marker chromosomes collected in our series, the SMC characterization revealed breakpoints within pericentromeric noncritical regions in two cases [4,14-16,20,22,33,34], consistent with the observation that the corresponding patients (3 and 15) had normal phenotypes (Figures 2A–C and 3A–D, Additional file 2: Table S2). Notably, the association of sSMC(2) and sSMC(18) observed in patient 15 has not been previously reported.…”
Section: Discussionsupporting
confidence: 86%
“…7,17 For these reasons, CMA has become widely used in clinical diagnostics for postnatal and more recently, prenatal diagnosis. 4,6,10,17,21,22,26,27 Although CMA has been validated for the clinical diagnosis of copy number abnormalities in prenatal samples in a number of smaller studies, 21,22,[27][28][29][30][31][32][33][34] current recommendations by the American College of Obstetricians and Gynecologists (ACOG) and European Best Practice Guidelines do not yet include offering CMA to all patients undergoing invasive prenatal testing, 35,36 but ACOG has endorsed it as an appropriate adjunct test in prenatal cases with abnormal ultrasound findings and a normal karyotype. A large multicenter trial investigating the role of CMA in prenatal diagnosis is nearing completion in the USA, and it is anticipated that its results may direct future revision of these guidelines.…”
Section: Introductionmentioning
confidence: 99%
“…Array-CGH and SNP array are powerful tools for delineating chromosomal imbalances. However, there have been no large series reporting the application of this technology to sSMC in a postnatal (14)(15)(16)(17)(18)(19)(20)(21)(22) or prenatal context (23)(24)(25)(26)(27)(28)(29), or both (30,31). Genotype-phenotype correlations should be extended, and SNP array also offers the possibility to detect uniparental disomy (UPD), in particular, for sSMC derived from chromosome 6, 7, 11 and 20 (32,33).…”
mentioning
confidence: 99%