PMID- 27343327 OWN - NLM STAT- MEDLINE DCOM- 20170418 LR - 20170418 IS - 1875-6263 (Electronic) IS - 1028-4559 (Linking) VI - 55 IP - 3 DP - 2016 Jun TI - Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay. PG - 419-22 LID - S1028-4559(16)30056-0 [pii] LID - 10.1016/j.tjog.2016.05.002 [doi] AB - OBJECTIVE: We present molecular cytogenetic characterization of mosaic small supernumerary marker chromosome (sSMC) derived from chromosome 17. MATERIALS AND METHODS: A 43-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[12]/46,XY[15]. Parental karyotypes were normal. Array comparative genomic hybridization (aCGH) and metaphase fluorescence in situ hybridization (FISH) were applied on cultured amniocytes. Quantitative fluorescent polymerase chain reaction (QF-PCR) was applied on the DNAs extracted from cultured amniocytes and parental bloods. The parents elected to continue the pregnancy. Conventional cytogenetic analysis on peripheral blood of the neonate was performed at age 2 months and 11 months. aCGH was performed on the peripheral blood at age 11 months. RESULTS: aCGH on cultured amniocytes revealed a result of arr 17q11.1q11.2 (25,372,965-27,725,134)x3.2 (Log2 ratio = 0.73) compassing NOS2, POLDIP2, NEK8, and TRAF4. Metaphase FISH analysis revealed a result of +mar .ish der(17)(D17Z1+, wcp17+)[4/5]. QF-PCR assays excluded uniparental disomy 17. The marker chromosome was the sSMC(17) of der(17)(:p11.1-->q11.2:). A 3004 g male baby was delivered at 38 weeks of gestation. Ventricular septal defect, neonatal developmental delay and speech delay with language problems were noted at neonatal follow-ups. The peripheral blood at age 2 months had a karyotype of 47,XY,+mar[11]/46,XY[29]. The peripheral blood analysis at age 11 months revealed a karyotype of 47,XY,+mar[27]/46,XY[13] and the aCGH result of arr 17q11.1q11.2 (25,616,440-27,822,571)x2.5 (Log2 ratio = 0.34). CONCLUSION: aCGH is useful in the precise measurement of the involved size of the euchromatic material and the associated genes in prenatally detected sSMC. CI - Copyright (c) 2016. Published by Elsevier B.V. FAU - Chen, Chih-Ping AU - Chen CP AD - 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. FAU - Chiang, Sheng AU - Chiang S AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taitung Branch, Taitung, Taiwan; MacKay Medical College, New Taipei City, Taiwan. FAU - Wang, Kung-Liahng AU - Wang KL AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taitung Branch, Taitung, Taiwan; MacKay Medical College, New Taipei City, Taiwan; Department of Obstetrics and Gynecology, Taipei Medical University, Taipei, Taiwan. FAU - Cho, Fu-Nan AU - Cho FN AD - Department of Obstetrics and Gynecology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan. FAU - Chen, Ming AU - Chen M AD - 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. FAU - Chern, Schu-Rern AU - Chern SR AD - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Wu, Peih-Shan AU - Wu PS AD - Gene Biodesign Co. Ltd., Taipei, Taiwan. FAU - Chen, Yen-Ni AU - Chen YN AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Chen, Shin-Wen AU - Chen SW AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Chang, Shun-Ping AU - Chang SP AD - 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. FAU - Chen, Weu-Lin AU - Chen WL AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Wang, Wayseen AU - Wang W AD - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan. LA - eng PT - Case Reports PT - Journal Article PL - China (Republic : 1949- ) TA - Taiwan J Obstet Gynecol JT - Taiwanese journal of obstetrics & gynecology JID - 101213819 SB - IM MH - Amniocentesis MH - Chromosome Duplication MH - Chromosomes, Human, Pair 17 MH - Developmental Disabilities/*genetics MH - Female MH - Heart Septal Defects, Ventricular/*genetics MH - Humans MH - Infant MH - Infant, Newborn MH - Karyotyping MH - Language Development Disorders/*genetics MH - Male MH - *Mosaicism MH - Pregnancy MH - Prenatal Diagnosis OTO - NOTNLM OT - amniocentesis OT - duplication of 17q11.1-q11.2 OT - sSMC17 OT - small supernumerary marker chromosome 17 EDAT- 2016/06/28 06:00 MHDA- 2017/04/19 06:00 CRDT- 2016/06/26 06:00 PHST- 2016/05/03 00:00 [accepted] PHST- 2016/06/26 06:00 [entrez] PHST- 2016/06/28 06:00 [pubmed] PHST- 2017/04/19 06:00 [medline] AID - S1028-4559(16)30056-0 [pii] AID - 10.1016/j.tjog.2016.05.002 [doi] PST - ppublish SO - Taiwan J Obstet Gynecol. 2016 Jun;55(3):419-22. doi: 10.1016/j.tjog.2016.05.002.