PMID- 31901043
OWN - NLM
STAT- MEDLINE
DCOM- 20200110
LR  - 20220402
IS  - 1008-9292 (Print)
IS  - 1008-9292 (Linking)
VI  - 48
IP  - 4
DP  - 2019 Jun 25
TI  - [Genetic analysis of a fetus with multiple malformations caused by complex 
      translocations of four chromosomes].
PG  - 397-402
AB  - OBJECTIVE: To conduct genetic analysis in a fetus with complex translocation of 
      four chromosomes. METHODS: G-banded chromosome karyotype analysis, single 
      nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization 
      (FISH) were performed in a fetus with multiple malformations. Peripheral blood 
      chromosome karyotype and FISH were also carried out for the parents. RESULTS: The 
      fetal amniotic fluid karyotype was 46, XY, t(12; 13)(q22; q32). SNP array 
      analysis showed that there were 20 192 kb duplication at 1q42.13q44 and 13 293 kb 
      deletion at 15q26.1q26.3 in the fetus. The results of karyotype and SNP array 
      were inconsistent. FISH analyses on the parental peripheral blood samples 
      demonstrated that the mother was a cryptic 46, XX, t(1; 15)(q42.1; q26.1) 
      translocation. The fetus had inherited 46, XY, t(12; 13)(q22; q32) from his 
      father and der(15)t(1; 15)(q42.1; q26.1) from his mother. CONCLUSIONS: The 
      1q42.13q44 duplication and 15q26.1q26.3 deletion may have contributed to the 
      abnormal sonographic features of the fetus. The combination of cytogenetic, SNP 
      array and FISH techniques was beneficial for providing an accurate genetic 
      counseling.
FAU - Luo, Yuqin
AU  - Luo Y
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Shen, Min
AU  - Shen M
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Sun, Yixi
AU  - Sun Y
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Qian, Yeqing
AU  - Qian Y
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Wang, Liya
AU  - Wang L
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Yu, Jialing
AU  - Yu J
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Hu, Junjie
AU  - Hu J
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Jin, Fan
AU  - Jin F
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
FAU - Dong, Minyue
AU  - Dong M
AD  - Key Laboratory of Reproductive Genetics, Ministry of Education, Department of 
      Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, 
      Hangzhou 310006, China.
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhejiang Da Xue Xue Bao Yi Xue Ban
JT  - Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical 
      sciences
JID - 100927946
SB  - IM
MH  - Chromosome Aberrations
MH  - Female
MH  - *Fetus/abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - *Translocation, Genetic
PMC - PMC8800750
EDAT- 2020/01/05 06:00
MHDA- 2020/01/11 06:00
PMCR- 2019/08/25
CRDT- 2020/01/05 06:00
PHST- 2020/01/05 06:00 [entrez]
PHST- 2020/01/05 06:00 [pubmed]
PHST- 2020/01/11 06:00 [medline]
PHST- 2019/08/25 00:00 [pmc-release]
AID - zjdxxbyxb-48-4-397 [pii]
AID - 10.3785/j.issn.1008-9292.2019.08.08 [doi]
PST - ppublish
SO  - Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Jun 25;48(4):397-402. doi: 
      10.3785/j.issn.1008-9292.2019.08.08.