PMID- 28600058
OWN - NLM
STAT- MEDLINE
DCOM- 20180411
LR  - 20180411
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 56
IP  - 3
DP  - 2017 Jun
TI  - Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a 
      small supernumerary marker chromosome derived from chromosome 11.
PG  - 394-397
LID - S1028-4559(17)30095-5 [pii]
LID - 10.1016/j.tjog.2017.04.025 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic 
      characterization of a small supernumerary marker chromosome (sSMC) derived from 
      chromosome 11. CASE REPORT: A 37-year-old, gravida 3, para 2, 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. Level II ultrasound findings were unremarkable. Array 
      comparative genomic hybridization (aCGH) on the DNA extracted from cultured 
      amniocytes revealed no genomic imbalance. The sSMC was characterized by spectral 
      karyotyping (SKY) using 24-color SKY probes and fluorescence in situ 
      hybridization (FISH) using a whole chromosome paint (wcp) probe and a CEP11 
      (D11Z1) probe. The result was 47,XX,+mar.ish(11)(SKY+, wcp11+, 
      D11Z1+)[16]/46,XX[4], indicating that the sSMC was derived from chromosome 11. A 
      healthy female baby was delivered at 37 weeks of gestation with no phenotypic 
      abnormalities. The cord blood had a karyotype of 47,XX,+mar[32]/46,XX[8]. 
      Polymorphic DNA marker analysis of the blood excluded uniparental disomy 11. The 
      female infant was normal in growth and psychomotor development during follow-ups 
      at two months of age. CONCLUSION: aCGH, SKY and FISH are useful in prenatal 
      diagnosis of an sSMC derived from the centromeric region of a non-acrocentric 
      chromosome.
CI  - Copyright (c) 2017. 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 - 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 - Wang, Pu-Tsui
AU  - Wang PT
AD  - Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, 
      Hsinchu, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lai, Shih-Ting
AU  - Lai ST
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, 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 - 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
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - *Chromosomes, Human, Pair 11
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Genetic Markers/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis/methods
MH  - Spectral Karyotyping
OTO - NOTNLM
OT  - Chromosome 11
OT  - FISH
OT  - Prenatal diagnosis
OT  - SKY
OT  - Small supernumerary marker chromosome
EDAT- 2017/06/11 06:00
MHDA- 2018/04/12 06:00
CRDT- 2017/06/11 06:00
PHST- 2017/03/30 00:00 [accepted]
PHST- 2017/06/11 06:00 [entrez]
PHST- 2017/06/11 06:00 [pubmed]
PHST- 2018/04/12 06:00 [medline]
AID - S1028-4559(17)30095-5 [pii]
AID - 10.1016/j.tjog.2017.04.025 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2017 Jun;56(3):394-397. doi: 10.1016/j.tjog.2017.04.025.