Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly,craniosynostosis and abnormal maternal serum biochemistry |
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| Authors: | Chih-Ping Chen Ming Chen Chen-Yu Chen Schu-Rern Chern Peih-Shan Wu Shun-Ping Chang Yu-Ling Kuo Wen-Lin Chen Chen-Wen Pan Wayseen Wang |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan;3. Department of Biotechnology, Asia University, Taichung, Taiwan;4. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;5. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;6. Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan;g Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;h Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;i Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan;j Gene Biodesign Co. Ltd, Taipei, Taiwan;k Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan;l Department of Bioengineering, Tatung University, Taipei, Taiwan |
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| Abstract: | We present prenatal diagnosis and molecular cytogenetic characterization of de novo pure trisomy 6p22.3 → p25.3 encompassing BMP6 in a fetus associated with microcephaly and craniosynostosis on prenatal ultrasound, abnormal maternal serum biochemistry of a low PAPP-A level in the first-trimester combined test, and a karyotype of 46,XX,der(22)t(6;22)(p22.3;p13)dn. The present case demonstrates the usefulness of rapid prenatal identification of the origin of the extra chromosome material on the short arm of an acrocentric chromosome by spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization. We review the phenotypic abnormality of craniosynostosis in previously reported patients with partial trisomy 6p. We discuss the genotype–phenotype correlation of the involved gene of BMP6 in this case. |
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| Keywords: | aCGH, array comparative genomic hybridization NT, nuchal translucency t, translocation MoM, multiples of the median β-hCG, β-human chorionic gonadotrophin dn, de novo PAPP-A, pregnancy-associated plasma protein-A der, derivative chromosome dup, duplication FISH, fluorescence in situ hybridization SKY, spectral karyotyping OMIM, Online Mendelian Inheritance in Man TGF-β, transforming growth factor-β |
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