التفاصيل البيبلوغرافية
| العنوان: |
Identification of critical regions for clinical features of distal 10q deletion syndrome. |
| المؤلفون: |
Yatsenko SA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW |
| المصدر: |
Clinical genetics [Clin Genet] 2009 Jul; Vol. 76 (1), pp. 54-62. Date of Electronic Publication: 2009 Jun 22. |
| نوع المنشور: |
Case Reports; Journal Article |
| اللغة: |
English |
| بيانات الدورية: |
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| أسماء مطبوعة: |
Original Publication: Copenhagen, Munksgaard. |
| مواضيع طبية MeSH: |
Chromosome Deletion*, Chromosomes, Human, Pair 10/*genetics, Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant, Newborn ; Karyotyping ; Male ; Syndrome |
| مستخلص: |
Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence in situ hybridization in five clinical cases of distal 10q deletions, including several with complex cytogenetic rearrangements and one with a partial male-to-female sex-reversal phenotype. These results have enabled us to narrow the previously proposed critical regions for the craniofacial, urogenital, and neuropsychiatric disease-related manifestations associated with distal 10q deletion syndrome. Furthermore, we propose that haploinsufficiency of the DOCK1 gene may play a crucial role in the pathogenesis of the 10q deletion syndrome. We hypothesize that alteration of DOCK1 and/or other genes involved in regulation and signaling of multiple pathways can explain the wide range of phenotypic variability between patients with similar or identical cytogenetic abnormalities. |
| تواريخ الأحداث: |
Date Created: 20090630 Date Completed: 20091007 Latest Revision: 20090807 |
| رمز التحديث: |
20240628 |
| DOI: |
10.1111/j.1399-0004.2008.01115.x |
| PMID: |
19558528 |
| قاعدة البيانات: |
MEDLINE |
Full Text Finder