PMID- 35181023
OWN - NLM
STAT- MEDLINE
DCOM- 20220310
LR  - 20220310
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 1
DP  - 2022 Jan
TI  - Molecular cytogenetic characterization of a de novo small supernumerary marker 
      chromosome derived from chromosome 15 in a pregnancy with incidental detection of 
      a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10).
PG  - 132-134
LID - S1028-4559(21)00325-9 [pii]
LID - 10.1016/j.tjog.2021.11.021 [doi]
AB  - OBJECTIVE: We present molecular cytogenetic characterization of a small 
      supernumerary marker chromosome (sSMC) derived from chromosome 15 in a pregnancy 
      with incidental detection of a maternal Robertsonian translocation of 
      45,XX,der(13; 14) (q10; q10). CASE REPORT: A 37-year-old, primigravid woman 
      underwent amniocentesis at 16 weeks of gestation because of advanced maternal 
      age. Amniocentesis revealed a karyotype of 47,XY,+mar. Simultaneous array 
      comparative genomic hybridization (aCGH) analysis on the DNA extracted from 
      uncultured amniocytes showed the result of no genomic imbalance or arr 
      (1-22) x 2, (X,Y) x 1. Cytogenetic analysis of the parents showed a karyotype of 
      45,XX,der(13; 14) (q10; q10) in the mother and a karyotype of 46,XY in the 
      father. Prenatal ultrasound was unremarkable. At 38 weeks of gestation, a 2790-g 
      phenotypically normal male baby was delivered. The cord blood had a karyotype of 
      47,XY,+mar. Metaphase fluorescence in situ hybridization (FISH) analysis showed 
      the result of +mar.ish dic(15) (D15Z1++, SNRPN-, PML-) (18/20). The extra 
      chromosome was derived from chromosome 15. CONCLUSION: Metaphase FISH analysis is 
      useful for the identification of the origin of an sSMC in the presence of no 
      genomic imbalance at aCGH analysis. Prenatal diagnosis of a de novo sSMC may be 
      associated with a Robertsonian translocation in the parents, and parental 
      cytogenetic analysis is necessary under such a circumstance.
CI  - Copyright (c) 2021. 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; 
      School of Chinese Medicine, College of Chinese Medicine, China Medical 
      University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, 
      National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of 
      Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung 
      University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Chen, Ming
AU  - Chen M
AD  - Department of Genomic Medicine, Department of Genomic Science and Technology, 
      Changhua Christian Hospital Healthcare System, Changhua, Taiwan; Department of 
      Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; 
      Department of Medical Science, National Tsing Hua University, Hsinchu, Taiwan; 
      Department of Biomedical Science, Dayeh University, Changhua, Taiwan.
FAU - Ma, Gwo-Chin
AU  - Ma GC
AD  - Department of Genomic Medicine, Department of Genomic Science and Technology, 
      Changhua Christian Hospital Healthcare System, Changhua, Taiwan; Department of 
      Biomedical Engineering, Chung Yuan Christian University, Taoyuan, Taiwan; 
      Department of Medical Laboratory Science and Biotechnology, Central Taiwan 
      University of Science and Technology, Taichung, Taiwan.
FAU - Chang, Shun-Ping
AU  - Chang SP
AD  - Department of Genomic Medicine, Department of Genomic Science and Technology, 
      Changhua Christian Hospital Healthcare System, Changhua, 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 - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Meng-Shan
AU  - Lee MS
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.
LA  - eng
PT  - Case Reports
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  - Chromosomes, Human, Pair 15/*genetics
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Incidental Findings
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - *Translocation, Genetic
OTO - NOTNLM
OT  - Chromosome 15
OT  - Prenatal diagnosis
OT  - Robertsonian translocation
OT  - Small supernumerary marker chromosome
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/02/20 06:00
MHDA- 2022/03/11 06:00
CRDT- 2022/02/19 05:25
PHST- 2021/09/09 00:00 [accepted]
PHST- 2022/02/19 05:25 [entrez]
PHST- 2022/02/20 06:00 [pubmed]
PHST- 2022/03/11 06:00 [medline]
AID - S1028-4559(21)00325-9 [pii]
AID - 10.1016/j.tjog.2021.11.021 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jan;61(1):132-134. doi: 10.1016/j.tjog.2021.11.021.