PMID- 31759544
OWN - NLM
STAT- MEDLINE
DCOM- 20200504
LR  - 20200505
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 58
IP  - 6
DP  - 2019 Nov
TI  - Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a 
      small supernumerary marker chromosome derived from chromosome 3.
PG  - 864-868
LID - S1028-4559(19)30230-X [pii]
LID - 10.1016/j.tjog.2019.09.023 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic 
      characterization of a small supernumerary marker chromosome (sSMC) derived from 
      chromosome 3. CASE REPORT: A 36-year-old woman underwent amniocentesis at 19 
      weeks of gestation because of advanced maternal age. Amniocentesis revealed a 
      karyotype of 47,XX,+mar[6]/46,XX[18]. The mother's karyotype was 
      47,XX,+mar[4]/46,XX[46]. The father's karyotype was 46.XY. Array comparative 
      genomic hybridization (aCGH) analysis of uncultured amniocytes revealed a result 
      of arr 3q11.1q12.1 (93,575,285-98,956,687) x 2-3 [GRCh37 (hg19)]. Prenatal 
      ultrasound findings were unremarkable. The parents elected to continue the 
      pregnancy, and a 2470-g female baby was delivered at 37 weeks of gestation 
      without phenotypic abnormalities. The cord blood had a karyotype of 
      47,XX,+mar[8]/46,XX[32]. aCGH analysis of cord blood revealed a result of arr 
      3q11.1q11.2 (93,649,973-97,137,764) x 2.4 [GRCh37 (hg19)] with a log2 ratio of 
      0.25 and a 30-40% mosaicism for 3.488-Mb dosage increase in 3q11.1-q11.2 
      encompassing four [Online Mendelian Inheritance in Man (OMIM)] genes of PROS1, 
      ARL13B, NSUN3 and EPHA6. Metaphase fluorescence in situ hybridization (FISH) 
      analysis confirmed 30% (6/20 cells) mosaicism for the sSMC(3) in the blood 
      lymphocytes. CONCLUSION: aCGH and FISH analyses are useful for perinatal 
      investigation of a prenatally detected sSMC.
CI  - Copyright (c) 2019. 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 - Ko, Tsang-Ming
AU  - Ko TM
AD  - Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
FAU - Chen, Chen-Yu
AU  - Chen CY
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, 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, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
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  - Adult
MH  - Amniocentesis/*methods
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
OTO - NOTNLM
OT  - Chromosome 3
OT  - FISH
OT  - Prenatal diagnosis
OT  - Small supernumerary marker chromosome
OT  - aCGH
EDAT- 2019/11/25 06:00
MHDA- 2020/05/06 06:00
CRDT- 2019/11/25 06:00
PHST- 2019/09/11 00:00 [accepted]
PHST- 2019/11/25 06:00 [entrez]
PHST- 2019/11/25 06:00 [pubmed]
PHST- 2020/05/06 06:00 [medline]
AID - S1028-4559(19)30230-X [pii]
AID - 10.1016/j.tjog.2019.09.023 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2019 Nov;58(6):864-868. doi: 10.1016/j.tjog.2019.09.023.