Abstract
Partial 9p deletion syndrome and partial 18q duplication syndrome each have distinct clinical features. We describe the prenatal molecular cytogenetic analysis of a de novo unbalanced karyotype with deletion of 9p23-pter and duplication of 18q12.2-qter in a mild dysmorphic female fetus. Fetal ultrasonography was performed and detailed karyotype analyses were conducted using a combination of G-banding, SKY analysis and FISH with chromosome arm specific sub-telomeric DNA probes and chromosomal region specific BAC clone probes. The fetal sonography and fetal echocardiography at 17 weeks’ gestation did not reveal any anomaly while the fetus had a large unbalance karyotype of 46,XX,der(9)t(9;18) (p23;q12.2) de novo. Its external phenotype at 21 weeks appeared to have some mild dysmorphic features including hypertelorism, low-set ears, micrognathia/retrognathia, clenched hands and rocker bottom feet. These dysmorphic features are seen in the Edward syndrome but with milder degrees.
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Acknowledgments
The study was supported by research grants from the National Health Research Institute, Taiwan (NHRI-EX92-9207 SI) and Bureau of Health Promotion, Department of Health, Taiwan (BH92-GC03-1) to CCL, and from National Science Council, Taiwan (NSC 91-2320-B-040-037) to YCL.
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The authors had obtained ethical committee’s approval from China Medical University Hospital, Taichung Taiwan to conduct this study.
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Li, YC., Pan, YJ., Tsai, FJ. et al. Prenatal molecular cytogenetic analysis of a mild dysmorphic fetus with a huge unbalance karyotype involving partial 9p deletion and partial 18q duplication. Genes Genom 38, 53–57 (2016). https://doi.org/10.1007/s13258-015-0340-z
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DOI: https://doi.org/10.1007/s13258-015-0340-z