22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
نویسندگان
چکیده
منابع مشابه
P-243: Prenatal Diagnosis Using Array CGH: Case Presentation
Background: Karyotype analysis has been the standard and reliable procedure for prenatal cytogenetic diagnosis since the 1970s. However, the major limitation remains requirement for cell culture, resulting in a delay of as much as 14 days to get the test results.CGH array technology has proven to be useful in detecting causative genomic imbalances or genetic mutations in as many as 15% of child...
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Array comparative genomic hybridization (aCGH) is a technique enabling high-resolution, genome-wide screening of segmental genomic copy number variations (CNVs). It is becoming an essential and a routine clinical diagnostic tool and is gradually replacing cytogenetic methods. Most of the clinically available aCGH platforms are designed to detect aneuploidies, well-characterized microdeletion/mi...
متن کاملImproving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete p...
متن کاملA case report of 22q11 deletion syndrome confirmed by array-CGH method
Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after Down syndrome and the most common genetic syndrome associated with cleft palate. Most of the 22q11.2 deletion cases are new occurrences or sporadic; however, in about 10 % of families, t...
متن کاملCGH-Explorer: a program for analysis of array-CGH data
SUMMARY CGH-Explorer is a program for visualization and statistical analysis of microarray-based comparative genomic hybridization (array-CGH) data. The program has preprocessing facilities, tools for graphical exploration of individual arrays or groups of arrays, and tools for statistical identification of regions of amplification and deletion.
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2010
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.33253