PMID- 33494993
OWN - NLM
STAT- MEDLINE
DCOM- 20210820
LR  - 20210820
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 60
IP  - 1
DP  - 2021 Jan
TI  - Prenatal diagnosis and molecular cytogenetic characterization of a pure ring 
      chromosome 21 with a 4.657-Mb 21q22.3 deletion.
PG  - 157-160
LID - S1028-4559(20)30300-4 [pii]
LID - 10.1016/j.tjog.2020.11.024 [doi]
AB  - OBJECTIVE: We present diagnosis and molecular cytogenetic characterization of a 
      pure ring chromosome [r(21)] with a 4.657-Mb 21q22.3 deletion. CASE REPORT: A 
      44-year-old woman underwent amniocentesis at 18 weeks of gestation because of 
      advanced maternal age. Amniocentesis revealed a karyotype 
      46,XX,r(21)(p11.2q22.3). Prenatal ultrasound findings were unremarkable. 
      Simultaneous array comparative genomic hybridization (aCGH) analysis on 
      uncultured amniocytes revealed a 4.657-Mb deletion at 21q22.3. The parental 
      karyotypes were normal. The pregnancy was subsequently terminated, and a 
      malformed fetus was delivered with facial dysmorphism and clinodactyly. Postnatal 
      cytogenetic analysis of umbilical cord revealed a karyotype of 
      46,XX,r(21)(p11.2q22.3). aCGH analysis of umbilical cord revealed the result of 
      arr 21q22.3 (43,427,188-48,084,156) x 1.0 with a 4.657-Mb 21q22.3 deletion 
      encompassing 57 Online Mendelian Inheritance in Man (OMIM) genes including TRPM2, 
      TSPEAR, COL18A1, COL6A1, COL6A2, LSS, PCNT, DIP2A, S100B and PRMT2. Metaphase 
      fluorescence in situ hybridization (FISH) analysis of the umbilical cord 
      fibroblasts confirmed a 21q22.3 deletion. CONCLUSION: Prenatal diagnosis of an 
      r(21) should include molecular cytogenetic characterization such as aCGH and FISH 
      to determine the extent of the 21q22.3 deletion.
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 University, Taipei, Taiwan; Department of Obstetrics and 
      Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan; 
      Department of Medical Laboratory Science and Biotechnology, Asia University, 
      Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Wang, Liang-Kai
AU  - Wang LK
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      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 - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Town, Dai-Dyi
AU  - Town DD
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  - Chromosome 21 ring
RN  - Chromosome 21, monosomy 21q22
SB  - IM
MH  - Abortion, Induced
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*diagnosis/embryology/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Ring Chromosomes
OTO - NOTNLM
OT  - 21q22.3 deletion
OT  - Prenatal diagnosis
OT  - Ring chromosome 21
OT  - r(21)
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2021/01/27 06:00
MHDA- 2021/08/21 06:00
CRDT- 2021/01/26 05:34
PHST- 2020/09/30 00:00 [accepted]
PHST- 2021/01/26 05:34 [entrez]
PHST- 2021/01/27 06:00 [pubmed]
PHST- 2021/08/21 06:00 [medline]
AID - S1028-4559(20)30300-4 [pii]
AID - 10.1016/j.tjog.2020.11.024 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2021 Jan;60(1):157-160. doi: 10.1016/j.tjog.2020.11.024.