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Prenatal diagnosis and genetic analysis of a fetus with 2p13.3-p12 microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 711-714, 2018.
Article in Chinese | WPRIM | ID: wpr-688161
ABSTRACT
<p><b>OBJECTIVE</b>To provide prenatal diagnosis for a pregnant woman with a history of Williams-Beuren syndrome pregnancy.</p><p><b>METHODS</b>The karyotypes of the fetus and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected for the fetus and his parents. aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus.</p><p><b>CONCLUSION</b>The 2p13.3-p12 microdeletion carried by the fetus was de novo. As it has involved dosage-sensitive genes SPR and DCTN1, the deletion is probably pathogenic.</p>
Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study / Prognostic study Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study / Prognostic study Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article