Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

2007 ◽  
Vol 143A (2) ◽  
pp. 172-178 ◽  
Author(s):  
Fikret Erdogan ◽  
Reinhard Ullmann ◽  
Wei Chen ◽  
Marei Schubert ◽  
Sabine Adolph ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Developmental Delay ◽  
Comparative Genomic Hybridization ◽  
Comparative Genomic ◽  
Whole Genome ◽  
Genomic Hybridization ◽  
Heart Defect

scholarly journals Yield of comparative genomic hybridization microarray in pediatric neurology practice

2019 ◽  
Vol 5 (6) ◽  
pp. e367 ◽  
Author(s):  
Shibalik Misra ◽  
Greg Peters ◽  
Elizabeth Barnes ◽  
Simone Ardern-Holmes ◽  
Richard Webster ◽  
...  
Keyword(s):  
Visual Impairment ◽  
Developmental Delay ◽  
Comparative Genomic Hybridization ◽  
Diagnostic Yield ◽  
Clinical Feature ◽  
Comparative Genomic ◽  
Whole Genome ◽  
Genomic Hybridization ◽  
Neurologic Disorders ◽  
Cortical Visual Impairment

ObjectiveThe present study investigated the diagnostic yield of array comparative genomic hybridization (aCGH) in a large cohort of children with diverse neurologic disorders as seen in child neurology practice to test whether pathogenic copy number variants (CNVs) were more likely to be detected in specific neurologic phenotypes.MethodsA retrospective cross-sectional analysis was performed on 555 children in whom a genetic etiology was suspected and who underwent whole-genome aCGH testing between 2006 and 2012. Neurologic phenotyping was performed using hospital medical records. An assessment of pathogenicity was made for each CNV, based on recent developments in the literature.ResultsForty-seven patients were found to carry a pathogenic CNV, giving an overall diagnostic yield of 8.59%. Certain phenotypes predicted for the presence of a pathogenic CNV, including developmental delay (odds ratio [OR] 3.69 [1.30–10.51]), cortical visual impairment (OR 2.73 [1.18–6.28]), dysmorphism (OR 2.75 [1.38–5.50]), and microcephaly (OR 2.16 [1.01–4.61]). The combination of developmental delay/intellectual disability with dysmorphism and abnormal head circumference was also predictive for a pathogenic CNV (OR 2.86 [1.02–8.00]). For every additional clinical feature, there was an increased likelihood of detecting a pathogenic CNV (OR 1.18 [1.01–1.38]).ConclusionsThe use of aCGH led to a pathogenic finding in 8.59% of patients. The results support the use of aCGH as a first tier investigation in children with diverse neurologic disorders, although whole-genome sequencing may replace aCGH as the detection method in the future. In particular, the yield was increased in children with developmental delay, dysmorphism, cortical visual impairment, and microcephaly.

scholarly journals Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

2019 ◽  
Vol 32 (7-8) ◽  
pp. 529
Author(s):  
Ana Rita Soares ◽  
Gabriela Soares ◽  
Manuela Mota-Freitas ◽  
Natália Oliva-Teles ◽  
Ana Maria Fortuna
Keyword(s):  
Intellectual Disability ◽  
Comparative Genomic Hybridization ◽  
Chromosomal Abnormality ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Family Members ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Subtelomeric Rearrangements

Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence.

Whole-genome analysis of human astrocytic tumors by comparative genomic hybridization

2000 ◽  
Vol 17 (1) ◽  
pp. 21-27 ◽  
Author(s):  
Motohiko Maruno ◽  
Hirotomo Ninomiya ◽  
A. K. M. Ghulam Muhammad ◽  
Masayuki Hirata ◽  
Amami Kato ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Genome Analysis ◽  
Comparative Genomic ◽  
Whole Genome ◽  
Astrocytic Tumors ◽  
Genomic Hybridization ◽  
Whole Genome Analysis
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