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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی O-2: Genetic Study of Patients with Multiple Congenital Anomalies (MC
چکیده انگلیسی مقاله Objective: Congenital anomalies, one of the leading causes of neonatal morbidity and mortality in many countries occur in 2-3% of all newborns. It has a wide spectrum, is clinically heterogeneous and remains unknown in up to half of cases. Although genetic factors have been long recognized to be an important cause for syndromic and nonsyndromic congenital anomalies, the genetic cause of the majority of birth defects remains unknown. Submicroscopic genomic rearrangements may be the cause in a significant proportion of birth defects, and many such cryptic genomic imbalances are not identifiable by using conventional cytogenetic methods because of their limited coverage (eg, FISH) and resolution (eg, GTG banding). Array CGH (aCGH) has been emerged in clinical practice because of its high resolution and throughput with possibilities for automation, robustness, simplicity, high reproducibility and precise mapping of aberration. In this study, we aim to study genomic imbalances in patients with non-Mendelian multiple congenital anomalies who had normal karyotype. Materials and Methods: Eighty seven patients who suffer from multiple congenital anomalies (MCAs) are enrolled to investigate in terms of DNA Copy Number Variations (CNVs). These patients pose defined criteria (three major anomalies including the followings: possible chromosomal abnormalities, dysmorphic feature, heart malformation, syndromic mental retardation, probable microdeletion syndrome, ambiguous genitalia, birth defect and history of chromosomal abnormalities in the family). Results: Up to now, 9 patients had abnormal MLPA and array CGH and their results will be explained in more details in the conference.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1510
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