【摘 要】
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Background: Array-based comparative genomic hybridization possesses a number of significant advantages over conventional cytogenetic and other molecular cytogenetic techniques, providing a sensitive a
【机 构】
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Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China
【出 处】
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广东省遗传学会第九届代表大会暨学术研讨会
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Background: Array-based comparative genomic hybridization possesses a number of significant advantages over conventional cytogenetic and other molecular cytogenetic techniques, providing a sensitive and comprehensive detection platform for unexpected imbalances in the genome wide.Case Presentation: The newborn proband, demonstrated with craniofacial dysmorphism and multiple malformations, was born to a family with spontaneous abortions.This pregnancy was uneventful, except the prenatal ultrasound examination showed an increased nuchal translucency at 12(+) weeks of gestation.Cytogenetics revealed an apparently normal karyotype, and the couple decided to continue the pregnancy.Array-basedCGH analysis was applied to the affected infant, identified a combination of 18p deletion and 7q duplication.Further study indicates that the unbalanced translocation was inherited from a balanced translocation carrier parent.Conclusions: In review of the case, several overlooked points leading to the missed diagnosis should be discussed and certain quality control strategies should be adopted to avoid similar problems in the future.Array-based CGH and karyotyping techniques are complemented by diverse detection spectrum and resolutions, and a combination of these methods could help providing optimal genetic diagnosis.Given that the array-CGHanalysis will not introduce additional risk to patients, it is reasonable to recommend those already undergoing invasive testing should take array-basedCGH as an adjunct to conventional cytogenetic tests and other molecular cytogenetic analysis.
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