التفاصيل البيبلوغرافية
| العنوان: |
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis |
| المؤلفون: |
Giuseppe Barrano, Anna Capalbo, Mario Pacella, Cristina Haass, Daria Darelli, Viola Alesi, Marta Bertoli, Antonio Novelli, Katia Petrilli, Sara Morara, Maurizio Finocchi |
| المصدر: |
American Journal of Medical Genetics Part A. 155:2543-2551 |
| بيانات النشر: |
Wiley, 2011. |
| سنة النشر: |
2011 |
| مصطلحات موضوعية: |
Male, Genetics, Comparative Genomic Hybridization, Infant, Trigonocephaly, Biology, medicine.disease, Phenotype, Metopic craniosynostosis, Craniosynostosis, Craniosynostoses, Chromosome 4, Karyotyping, medicine, Humans, Chromosome Deletion, Chromosomes, Human, Pair 4, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical) |
| الوصف: |
Interstitial deletion of the short arm of chromosome 4, excluding cytoband p16, has been described as a distinct phenotype from the Wolf–Hirschhorn syndrome, characterized by a deletion encompassing cytoband p16. We report on the case of a 14-month-old boy with an apparently isolated craniosynostosis and harboring a de novo microdeletion in band 4p15. The imbalance, about 4 Mb in size is, to date, the smallest deletion ever described in this region, encompassing 12 genes. A comparison with other previously described cases of 4p15 deletion is made, and the possible roles of some genes involved in the deletion are discussed. © 2011 Wiley-Liss, Inc. |
| تدمد: |
1552-4825 |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4eed972d34468ea008dfa693685b23Test
https://doi.org/10.1002/ajmg.a.34201Test |
| حقوق: |
CLOSED |
| رقم الانضمام: |
edsair.doi.dedup.....cc4eed972d34468ea008dfa693685b23 |
| قاعدة البيانات: |
OpenAIRE |
