PMID- 31542095
OWN - NLM
STAT- MEDLINE
DCOM- 20200303
LR  - 20200303
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 58
IP  - 5
DP  - 2019 Sep
TI  - Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review.
PG  - 692-697
LID - S1028-4559(19)30175-5 [pii]
LID - 10.1016/j.tjog.2019.07.020 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in 
      a pregnancy with facial cleft, oligohydramnios and intrauterine growth 
      restriction (IUGR), and we review the literature. CASE REPORT: A 37-year-old 
      woman underwent amniocentesis at 19 weeks of gestation because of advanced 
      maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array 
      comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed 
      a result of arr(22) x 3 [0.8]. Prenatal ultrasound revealed fetal median facial 
      cleft, oligohydramnios and IUGR. Repeat amniocentesis at 22 weeks of gestation 
      using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 
      (17,397,498-51,178,264) x 2.8 compatible with 80% mosaicism for trisomy 22, and a 
      fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with 
      trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat 
      amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes 
      were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the 
      extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was 
      delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis 
      of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7]. 
      CONCLUSION: Fetuses with high level mosaicism for trisomy 22 at amniocentesis may 
      present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.
CI  - Copyright (c) 2019. 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 - Huang, Ming-Chao
AU  - Huang MC
AD  - Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan; 
      Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, 
      Hsinchu, Taiwan; MacKay Junior College of Medicine, Nursing, and Management, 
      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 - Chuang, Tzu-Yun
AU  - Chuang TY
AD  - Department of Obstetrics and Gynecology, 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; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Trisomy 22 mosaicism syndrome
SB  - IM
MH  - Abortion, Induced
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Chromosome Disorders/*diagnosis/embryology
MH  - Chromosomes, Human, Pair 22
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Growth Retardation/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Maxillofacial Abnormalities/*diagnosis/embryology/genetics
MH  - Mosaicism/embryology
MH  - Oligohydramnios/*diagnosis/genetics
MH  - Pregnancy
MH  - Trisomy/*diagnosis
MH  - Ultrasonography, Prenatal
MH  - Uniparental Disomy/*diagnosis
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 22
OT  - Prenatal diagnosis
OT  - Ultrasound
EDAT- 2019/09/23 06:00
MHDA- 2020/03/04 06:00
CRDT- 2019/09/23 06:00
PHST- 2019/07/01 00:00 [accepted]
PHST- 2019/09/23 06:00 [entrez]
PHST- 2019/09/23 06:00 [pubmed]
PHST- 2020/03/04 06:00 [medline]
AID - S1028-4559(19)30175-5 [pii]
AID - 10.1016/j.tjog.2019.07.020 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2019 Sep;58(5):692-697. doi: 10.1016/j.tjog.2019.07.020.