PMID- 32127161
OWN - NLM
STAT- MEDLINE
DCOM- 20201214
LR  - 20201214
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 2
DP  - 2020 Mar
TI  - Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at 
      amniocentesis in a pregnancy with a favorable outcome and a review of mosaic 
      distal 5p deletion.
PG  - 334-337
LID - S1028-4559(20)30028-0 [pii]
LID - 10.1016/j.tjog.2020.01.028 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaicism for a distal 5p deletion in 
      a single colony at amniocentesis with a favorable outcome, and we review the 
      literature of mosaic distal 5p deletion. CASE REPORT: A 35-year-old primigravid 
      woman underwent amniocentesis at 18 weeks of gestation because of advanced 
      maternal age. Amniocentesis revealed the result of 
      46,XY,del(5)(p13)[1]/46,XY[19]. Among 20 colonies of cultured amniocytes, all 
      four cells in one colony had a karyotype of 46,XY,del(5)(p13) with a distal 
      deletion of 5p13-->pter, while the rest 19 colonies had a karyotype of 46,XY. 
      Repeat amniocentesis was performed at 21 weeks of gestation. Conventional 
      cytogenetic analysis revealed a karyotype of 46,XY in all 20 colonies. 
      Simultaneous array comparative genomic hybridization (aCGH) using the DNA 
      extracted from the uncultured amniocytes revealed no genomic imbalance. Prenatal 
      ultrasound findings were unremarkable. At 38 weeks of gestation, a 3621-g male 
      baby was delivered with no phenotypic abnormality. The cord blood had a karyotype 
      of 46,XY. Postnatal urinary cells analysis by interphase fluorescence in situ 
      hybridization (FISH) using a 5p terminal FISH probe detected no abnormal cell in 
      the urine. CONCLUSION: Mosaicism for a distal 5p deletion in a single colony at 
      amniocentesis can be associated with a favorable outcome.
CI  - Copyright (c) 2020. 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 - 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, Wen-Lin
AU  - Chen WL
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
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Comparative Genomic Hybridization
MH  - Cri-du-Chat Syndrome/*diagnosis/embryology/genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Karyotyping
MH  - Live Birth/genetics
MH  - Male
MH  - Mosaicism/*embryology
MH  - Pregnancy
OTO - NOTNLM
OT  - Amniocentesis
OT  - Distal 5p deletion
OT  - Mosaicism
COIS- Declaration of Competing Interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2020/03/05 06:00
MHDA- 2020/12/15 06:00
CRDT- 2020/03/05 06:00
PHST- 2019/11/27 00:00 [accepted]
PHST- 2020/03/05 06:00 [entrez]
PHST- 2020/03/05 06:00 [pubmed]
PHST- 2020/12/15 06:00 [medline]
AID - S1028-4559(20)30028-0 [pii]
AID - 10.1016/j.tjog.2020.01.028 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Mar;59(2):334-337. doi: 10.1016/j.tjog.2020.01.028.