RESUMO
BACKGROUND: Chromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. MATERIALS AND METHODS: Among 971 patient samples, 133 (13.6%) had pathogenic variants. RESULTS: While analyzing, an "in-house" variant database was also used besides other databases. Owing to this, we have found chance to report the most frequent benign variants in Turkish population. CONCLUSION: With the additional data we acquired in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations.
Assuntos
Aberrações Cromossômicas , Anormalidades Congênitas/genética , Variações do Número de Cópias de DNA/genética , Deficiências do Desenvolvimento/genética , Anormalidades Congênitas/patologia , Deficiências do Desenvolvimento/patologia , Humanos , Análise em Microsséries , TurquiaRESUMO
Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation. Approximately 60% of cases have an affected parent. MYCN is the only gene in which mutations are known to cause FS. In this report, we present a case with Feingold Syndrome having a novel mutation in MYCN gene and discuss genetic counselling and prenatal diagnosis due to pregnancy of the patient's mother.
