title: Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chen-Yu
authors.initials: CY
authors.lastname: Chen
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.affiliation: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.affiliation: Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
authors.forename: Shun-Ping
authors.initials: SP
authors.lastname: Chang
authors.affiliation: Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Yu-Ling
authors.initials: YL
authors.lastname: Kuo
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Wen-Lin
authors.initials: WL
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chen-Wen
authors.initials: CW
authors.lastname: Pan
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D001671:Biochemistry / Q000379:methods; D055418:Bone Morphogenetic Protein 6 / Q000235:genetics; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D005260:Female; D005333:Fetus; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008831:Microcephaly / Q000235:genetics*; D011266:Pregnancy-Associated Plasma Protein-A / Q000235:genetics / Q000378:metabolism; D011296:Prenatal Diagnosis / Q000379:methods; D032681:Spectral Karyotyping / Q000379:methods; D014314:Trisomy / Q000235:genetics*; D016216:Ultrasonography, Prenatal / Q000379:methods
chemical_list: C525816:BMP6 protein, human; D055418:Bone Morphogenetic Protein 6; D011266:Pregnancy-Associated Plasma Protein-A; C579283:PAPPA protein, human
keywords: BMP6; Craniosynostosis; FISH; Microcephaly; MoM; NT; OMIM; Online Mendelian Inheritance in Man; PAPP-A; Partial trisomy 6p; Prenatal diagnosis; SKY; TGF-β; aCGH; array comparative genomic hybridization; de novo; der; derivative chromosome; dn; dup; duplication; fluorescence in situ hybridization; multiples of the median; nuchal translucency; pregnancy-associated plasma protein-A; spectral karyotyping; t; transforming growth factor-β; translocation; β-hCG; β-human chorionic gonadotrophin