title: Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay.
abstract: OBJECTIVE
  We present molecular cytogenetic characterization of mosaic small supernumerary marker chromosome (sSMC) derived from chromosome 17.
  
  
  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)×3.2 (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)×2.5 (Log2 ratio = 0.34).
  
  
  CONCLUSIONS
  aCGH is useful in the precise measurement of the involved size of the euchromatic material and the associated genes in prenatally detected sSMC.
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 Obstetrics and Gynecology, MacKay Memorial Hospital, Taitung Branch, Taitung, Taiwan; MacKay Medical College, New Taipei City, Taiwan.
authors.forename: Sheng
authors.initials: S
authors.lastname: Chiang
authors.affiliation: 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.
authors.forename: Kung-Liahng
authors.initials: KL
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
authors.forename: Fu-Nan
authors.initials: FN
authors.lastname: Cho
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 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 Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Shin-Wen
authors.initials: SW
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.
authors.forename: Shun-Ping
authors.initials: SP
authors.lastname: Chang
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Weu-Lin
authors.initials: WL
authors.lastname: Chen
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: D000649:Amniocentesis; D058674:Chromosome Duplication; D002886:Chromosomes, Human, Pair 17; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis
keywords: amniocentesis; duplication of 17q11.1-q11.2; sSMC17; small supernumerary marker chromosome 17