PMID- 35361403
OWN - NLM
STAT- MEDLINE
DCOM- 20220404
LR  - 20220405
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 2
DP  - 2022 Mar
TI  - Prenatal diagnosis and molecular cytogenetic characterization of a familial small 
      supernumerary marker chromosome derived from the acrocentric chromosome 14/22.
PG  - 364-367
LID - S1028-4559(22)00030-4 [pii]
LID - 10.1016/j.tjog.2022.02.030 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic 
      characterization of a familial small supernumerary marker chromosome (sSMC) 
      derived from the acrocentric chromosome 14/22. CASE REPORT: A 40-year-old, 
      gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because 
      of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar. 
      Prenatal ultrasound was unremarkable. Simultaneous array comparative genomic 
      hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes 
      revealed no genomic imbalance. Cytogenetic analysis of the parental bloods 
      revealed a karyotype of 47,XY,inv (9) (p12q13),+mar in the father and a karyotype 
      of 46, XX in the mother. The sSMC was investigated by fluorescence in situ 
      hybridization (FISH) analysis on cultured amniocytes using the CEP 13/21 
      alpha-satellite specific gene probe labeled with fluorescein isothiocyanate (FITC) 
      fluorophore and the CEP 14/21 alpha-satellite specific gene probe labeled with Texas 
      Red fluorophore (Cytocell Inc.). The result showed that the sSMC was derived from 
      the chromosome 14/22, or+mar.ish dic (14/22) (D13Z1/D21Z1-, D14Z1/D22Z1+)[20]. A 
      healthy male baby was delivered at term with no phenotypic abnormality. 
      Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on parental 
      bloods and the child's peripheral blood was used to exclude uniparental disomy 
      (UPD) (14) and UPD(22). CONCLUSION: FISH analysis is useful for the determination 
      of an sSMC derived from an acrocentric chromosome under the circumstance of no 
      genomic imbalance at amniocentesis. QF-PCR analysis is useful for excluding the 
      possible associated UPD.
CI  - Copyright (c) 2022. 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, And 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, And 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, And 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 - Chen, Wen-Lin
AU  - Chen WL
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 - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, 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
SB  - IM
MH  - *Chromosomes, Human, Pair 14
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis
OTO - NOTNLM
OT  - Chromosome 14/22
OT  - Prenatal diagnosis
OT  - Small supernumerary marker chromosome
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/04/02 06:00
MHDA- 2022/04/05 06:00
CRDT- 2022/04/01 05:32
PHST- 2022/01/13 00:00 [accepted]
PHST- 2022/04/01 05:32 [entrez]
PHST- 2022/04/02 06:00 [pubmed]
PHST- 2022/04/05 06:00 [medline]
AID - S1028-4559(22)00030-4 [pii]
AID - 10.1016/j.tjog.2022.02.030 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Mar;61(2):364-367. doi: 10.1016/j.tjog.2022.02.030.