scholarly journals Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Nian Liu ◽  
Jiong Yan ◽  
Xinlin Chen ◽  
Jieping Song ◽  
Bo Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Interstitial Deletion ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Ultrasound Findings

scholarly journals Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p

2011 ◽  
Vol 50 (2) ◽  
pp. 249-252 ◽  
Author(s):  
Chih-Ping Chen ◽  
Yi-Ning Su ◽  
Schu-Rern Chern ◽  
Fuu-Jen Tsai ◽  
Pei-Chen Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Interstitial Deletion ◽  
Comparative Genomic ◽  
Genomic Hybridization

Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH)

Gene ◽  
2012 ◽  
Vol 495 (2) ◽  
pp. 178-182 ◽  
Author(s):  
Chia-Cheng Hung ◽  
Chia-Hui Lin ◽  
Shin-Yu Lin ◽  
Jin-Chung Shin ◽  
Chien-Nan Lee ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Array Cgh ◽  
De Novo ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Comparative Genomic Hybridization Array

scholarly journals Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

2011 ◽  
Vol 1 (01) ◽  
pp. 029-032 ◽  
Author(s):  
Pietro Cignini ◽  
Angela Dinatale ◽  
Laura D'Emidio ◽  
Annamaria Giacobbe ◽  
Elisa Pappalardo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Ring Chromosome ◽  
Comparative Genomic ◽  
Chromosome 16 ◽  
Genomic Hybridization

scholarly journals Array-comparative genomic hybridization results in clinically affected cases with apparently balanced chromosomal rearrangements

2020 ◽  
Vol 23 (2) ◽  
pp. 25-34
Author(s):  
NB Satkin ◽  
B Karaman ◽  
S Ergin ◽  
H Kayserili ◽  
IH Kalelioglu ◽  
...  
Keyword(s):  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Chromosomal Rearrangements ◽  
Chromosomal Microarray ◽  
Comparative Genomic ◽  
Gene Gain ◽  
Loss Of Function ◽  
Genomic Hybridization ◽  
Ultrasound Findings

Abstract Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and de novo in 14 cases. Seven de novo cases were imbalanced (in postnatal series 33.3% and in de novo cases 50.0%). Out of 13 prenatal cases, five were familial and eight were de novo in origin and two de novo cases were imbalanced (in 15.4% prenatal series and in 25.0% de novo cases). No cryptic imbalance was observed in familial cases. The anomaly rates with array studies ranged between 14.3-25.0% in familial and between 20.0-57.5% in de novo cases of postnatal series in the literature. Studies focused on prenatal ABCR cases with abnormal ultrasound findings are limited and no submicroscopic imbalance was reported in the cohorts. When de novo postnatal or prenatal results were combined, the percentage of abnormalities detected by CMA was 40.9%. Taking this contribution into consideration, all ABCRs should be investigated by CMA even if the fetal ultrasound findings are normal.

scholarly journals Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation

2012 ◽  
Vol 51 (3) ◽  
pp. 485-488 ◽  
Author(s):  
Chih-Ping Chen ◽  
Yi-Ning Su ◽  
Schu-Rern Chern ◽  
Jun-Wei Su ◽  
Yu-Ting Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Comparative Genomic ◽  
Genomic Hybridization

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.

Predictors for Choosing Array-Comparative Genomic Hybridization for Prenatal Diagnosis

2014 ◽  
Vol 123 ◽  
pp. 100S-101S
Author(s):  
Steve Rad ◽  
Aaron L. Turner ◽  
Dalar Ratousi ◽  
Paola Aghajanian ◽  
John Williams ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Comparative Genomic ◽  
Genomic Hybridization
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