التفاصيل البيبلوغرافية
| العنوان: |
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations |
| المؤلفون: |
Francesca Romana Grati, Bettina Bessieres-Grattagliano, Claire Beneteau, Nina Horelli-Kuitunen, François Vialard, D. Molina-Gomes, Jose Antonio Martínez-Conejero, Céline Dupont, Kwong Wai Choy, Azzedine Aboura, Sylvie Jaillard, Justine Besseau-Ayasse, Giuseppe Simoni, Marie-Laure Maurin, Aurélie Coussement, Anne-Claude Tabet, Jérôme Toutain, Gustavo Ayala, Brigitte Benzacken |
| المصدر: |
Prenatal Diagnosis. 35:35-43 |
| بيانات النشر: |
Wiley, 2014. |
| سنة النشر: |
2014 |
| مصطلحات موضوعية: |
Pregnancy, Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Obstetrics and Gynecology, Chromosome, Prenatal diagnosis, medicine.disease, Phenotype, 3. Good health, Medicine, Copy-number variation, Expressivity (genetics), business, Genetics (clinical), Comparative genomic hybridization |
| الوصف: |
Microduplication 22q11.2 is primarily characterized by a highly variable clinical phenotype, which ranges from apparently normal or slightly dysmorphic features (in the presence or absence of learning disorders) to severe malformations with profound mental retardation. Hence, genetic counseling is particularly challenging when microduplication 22q11.2 is identified in a prenatal diagnosis. Here, we report on 24 prenatal cases of microduplication 22q11.2. Seventeen of the cases were also reanalyzed by microarray analysis, in order to determine copy number variations (CNVs, which are thought to influence expressivity). We also searched for possible correlations between fetal phenotypes, indications for invasive prenatal diagnosis, inheritance, and pregnancy outcomes. Of the 24 cases, 15 were inherited, six occurred de novo, and three were of unknown origin. Termination of pregnancy occurred in seven cases and was mainly decided on the basis of ultrasound findings. Moreover, additional CNVs were found in some patients and we try to make a genotype-phenotype correlation. We discuss the complexity of genetic counseling for microduplication 22q11.2 and comment on possible explanations for the clinical heterogeneity of this syndrome. In particular, we assessed the co-existence of additional CNVs and their contribution to phenotypic variations in chromosome 22q11.2 microduplication syndrome. © 2014 John Wiley & Sons, Ltd. |
| تدمد: |
0197-3851 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_________::9ce3b3cb49c93f83f86961d6dd474976
https://doi.org/10.1002/pd.4478 |
| حقوق: |
CLOSED |
| رقم الأكسشن: |
edsair.doi...........9ce3b3cb49c93f83f86961d6dd474976 |
| قاعدة البيانات: |
OpenAIRE |
