PMID- 31297990
OWN - NLM
STAT- MEDLINE
DCOM- 20200629
LR  - 20210110
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 7
IP  - 8
DP  - 2019 Aug
TI  - A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent 
      fetal conotruncal defects.
PG  - e847
LID - 10.1002/mgg3.847 [doi]
LID - e847
AB  - BACKGROUND: 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome 
      region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) 
      are rarely reported. METHODS: Chromosomal microarray analysis (CMA) and 
      fluorescence in situ hybridization fluorescence in situ hybridization (FISH) were 
      performed to analyze the copy number alterations. Clinical examinations related 
      to 22q11.2DS were performed on the carrier in this family. RESULTS: A healthy 
      female in a Chinese family with a history of two pregnancies with conotruncal 
      defects, one with pulmonary atresia (PA) and another with Tetralogy of Fallot 
      (TOF) was recruited in this study. CMA revealed that the fetus with TOF has a 
      microdeletion on the 22q11.2 locus, and his mother was further confirmed a 
      somatic mosaicism of 22q11.2 microdeletion by interphase FISH. Somatic mosaic 
      22q11.2 deletion in the mother was validated in the metaphase lymphocytes. 
      Clinical examinations related to 22q11.2DS showed that the mother had 
      hypocalcemia and low percentages of CD4 + T helper cells. The family history of 
      recurrent fetal conotruncal defects and genetic results demonstrated the 
      inherited possibility of maternal germline mosaicism of the 22q11.2 
      microdeletion. CONCLUSION: Our report was the first case in a Chinese family to 
      present that a somatic and suspected gonadal mosaicism of the 22q11.2 
      microdeletion in female causes recurrent fetal conotruncal defects.
CI  - (c) 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley 
      Periodicals, Inc.
FAU - Chen, Weicheng
AU  - Chen W
AD  - Cardiovascular Center, Children's Hospital of Fudan University, Shanghai, China.
FAU - Li, Xiaodi
AU  - Li X
AD  - Cardiovascular Center, Children's Hospital of Fudan University, Shanghai, China.
FAU - Sun, Liqun
AU  - Sun L
AD  - Department of Ultrasound, International Peace Maternity and Children Health 
      Hospital, Shanghai, China.
FAU - Sheng, Wei
AU  - Sheng W
AUID- ORCID: 0000-0003-0145-3258
AD  - Cardiovascular Center, Children's Hospital of Fudan University, Shanghai, China.
AD  - Shanghai Key Laboratory of Birth Defects, Shanghai, China.
FAU - Huang, Guoying
AU  - Huang G
AD  - Cardiovascular Center, Children's Hospital of Fudan University, Shanghai, China.
AD  - Shanghai Key Laboratory of Birth Defects, Shanghai, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190711
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
RN  - Shprintzen Golberg craniosynostosis
SB  - IM
MH  - Adult
MH  - Arachnodactyly
MH  - Craniosynostoses
MH  - DiGeorge Syndrome/*diagnosis/genetics
MH  - Female
MH  - Fetus/diagnostic imaging/pathology
MH  - Gene Dosage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Marfan Syndrome
MH  - Medical History Taking
MH  - *Mosaicism
MH  - Pedigree
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Pulmonary Atresia/diagnosis/*genetics/pathology
MH  - Tetralogy of Fallot/diagnosis/*genetics/pathology
PMC - PMC6687652
OTO - NOTNLM
OT  - 22q11.2 microdeletion syndrome
OT  - chromosomal microarray analysis
OT  - fluorescence in situ hybridisation
OT  - mosaic fetal conotruncal defects
COIS- The authors declare that they have no competing interests.
EDAT- 2019/07/13 06:00
MHDA- 2020/07/01 06:00
PMCR- 2019/07/11
CRDT- 2019/07/13 06:00
PHST- 2019/03/17 00:00 [received]
PHST- 2019/06/10 00:00 [revised]
PHST- 2019/06/17 00:00 [accepted]
PHST- 2019/07/13 06:00 [pubmed]
PHST- 2020/07/01 06:00 [medline]
PHST- 2019/07/13 06:00 [entrez]
PHST- 2019/07/11 00:00 [pmc-release]
AID - MGG3847 [pii]
AID - 10.1002/mgg3.847 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2019 Aug;7(8):e847. doi: 10.1002/mgg3.847. Epub 2019 Jul 
      11.