PMID- 27125413
OWN - NLM
STAT- MEDLINE
DCOM- 20170425
LR  - 20170425
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 2
DP  - 2016 Apr
TI  - Prenatal diagnosis and molecular cytogenetic characterization of a de novo 
      4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 
      haploinsufficiency and tetralogy of Fallot.
PG  - 270-4
LID - S1028-4559(16)00048-6 [pii]
LID - 10.1016/j.tjog.2016.02.013 [doi]
AB  - OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic 
      characterization of a de novo 15q14 microdeletion associated with tetralogy of 
      Fallot (TOF). MATERIALS AND METHODS: This was the first pregnancy of a 
      31-year-old primigravid woman. The pregnancy was uneventful until 23 weeks of 
      gestation when TOF was first noted. The woman underwent amniocentesis at 23 weeks 
      of gestation. Conventional cytogenetic analysis was performed using cultured 
      amniocytes and parental bloods. Array comparative genomic hybridization (aCGH) 
      was performed on uncultured amniocytes and parental bloods. Metaphase 
      fluorescence in situ hybridization (FISH) was performed on cultured amniocytes. 
      Quantitative fluorescent-polymerase chain reaction (QF-PCR) analysis was 
      performed on placental tissue and parental bloods. RESULTS: Conventional 
      cytogenetics on cultured amniocytes revealed a karyotype of 46,XY, aCGH on 
      uncultured amniocytes revealed a de novo 4.858-Mb microdeletion in 15q14 
      encompassing ACTC1 and MEIS2, and metaphase FISH analysis on cultured amniocytes 
      confirmed a 15q14 microdeletion. Postnatal phenotype included facial dysmorphism. 
      QF-PCR assays detected a paternal origin of the 15q14 microdeletion in the fetus. 
      CONCLUSION: Fetuses with 15q14 microdeletion may present TOF on the 
      second-trimester ultrasound. aCGH and metaphase FISH are useful for rapid 
      prenatal diagnosis of 15q14 microdeletion associated with TOF. A prenatal 
      diagnosis of TOF should include a differential diagnosis of 15q14 microdeletion 
      in addition to 22q11.2 deletion syndrome and other microdeletion syndromes.
CI  - Copyright (c) 2016. 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 - Chen, Chen-Yu
AU  - Chen CY
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, 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, Yen-Ni
AU  - Chen YN
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Li-Feng
AU  - Chen LF
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
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; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - 0 (ACTC1 protein, human)
RN  - 0 (Actins)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (MEIS2 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Actins/*genetics
MH  - Adult
MH  - *Base Sequence
MH  - Chromosomes, Human, Pair 15
MH  - Comparative Genomic Hybridization
MH  - Craniofacial Abnormalities/genetics
MH  - Female
MH  - Haploinsufficiency
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Karyotyping
MH  - Pregnancy
MH  - *Sequence Deletion
MH  - Tetralogy of Fallot/diagnostic imaging/*genetics
MH  - Transcription Factors/*genetics
MH  - Ultrasonography, Prenatal
OTO - NOTNLM
OT  - 15q14 microdeletion
OT  - ACTC1
OT  - MEIS2
OT  - prenatal diagnosis
OT  - tetralogy of Fallot
EDAT- 2016/04/30 06:00
MHDA- 2017/04/26 06:00
CRDT- 2016/04/30 06:00
PHST- 2016/02/24 00:00 [accepted]
PHST- 2016/04/30 06:00 [entrez]
PHST- 2016/04/30 06:00 [pubmed]
PHST- 2017/04/26 06:00 [medline]
AID - S1028-4559(16)00048-6 [pii]
AID - 10.1016/j.tjog.2016.02.013 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Apr;55(2):270-4. doi: 10.1016/j.tjog.2016.02.013.