Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review |
| |
| Authors: | Chih-Ping Chen Ming Chen Chia-Hsun Wu Chen-Ju Lin Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Shun-Ping Chang Li-Feng Chen Wayseen Wang |
| |
| 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;7. Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;8. Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;9. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan;10. Department of Medicine, MacKay Medical College, Taipei, Taiwan;11. Gene Biodesign Co. Ltd, Taipei, Taiwan;12. Department of Bioengineering, Tatung University, Taipei, Taiwan |
| |
| Abstract: | ObjectiveWe present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1.Case reportA 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. aCGH analysis of cultured amniocytes revealed a 2.855-Mb duplication of 21q11.2-q21.1 encompassing the genes of LIPI, ABCC13 and NRIP1. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes revealed a result of 47,XX,+mar .ish der(13/21) (D13/21Z1+) [10]. Spectral karyotyping analysis determined the origin of chromosome 21 in the sSMC. A female fetus was delivered with no phenotypic features of Down syndrome and no structural abnormalities. We discuss the genotype–phenotype correlation of LIPI, ABCC13 and NRIP1, and review the literature of an sSMC(21) associated with dup(21)(q11.2q21.1).ConclusionaCGH is useful for identification of the nature and genetic component of a prenatally detected sSMC. |
| |
| Keywords: | 21q11.2-q21.1 duplication Array comparative genomic hybridization Chromosome 21 Small supernumerary marker chromosome |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
