PMID- 31055807
OWN - NLM
STAT- MEDLINE
DCOM- 20190813
LR  - 20190813
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 6
DP  - 2019 Jun 10
TI  - [Combined chromosomal microarray analysis and fluorescence in situ hybridization 
      for prenatal diagnosis of two cases with Pallister-Killian syndrome].
PG  - 571-573
LID - 10.3760/cma.j.issn.1003-9406.2019.06.009 [doi]
AB  - OBJECTIVE: To carry out prenatal diagnosis for two cases of Pallister-Killian 
      syndrome (PKS) using combined chromosomal microarray analysis (CMA) and 
      fluorescence in situ hybridization (FISH). METHODS: Umbilical cord blood was 
      sampled from the two fetuses and subjected to G-banding chromosomal karyotyping, 
      CMA and FISH assay. RESULTS: Chromosomal karyotyping showed that the two fetuses 
      were mos 47,XX,+i(12)(p10)[3]/46,XX[197] and mos 47,XY,+i(12)(p10)[5]/46,XY[95], 
      respectively. CMA showed that both had carried duplication of 12p. The results of 
      interphase FISH confirmed mosaicism of 12p tetrasomy. Combined with 
      ultrasonographic findings, both fetuses were diagnosed as PKS. CONCLUSION: 
      Prenatal ultrasound examination, karyotype analysis of umbilical cord blood, 
      G-banded chromosomal analysis, CMA and FISH may be used in conjunct for the 
      prenatal diagnosis of PKS.
FAU - Wang, Ting
AU  - Wang T
AD  - Medical Genetics Center, Guangdong Women and Children Health Care Hospital, 
      Guangzhou, Guangdong 511442, China. Email: kevinwtwt@163.com.
FAU - Ren, Congmian
AU  - Ren C
FAU - Guo, Li
AU  - Guo L
FAU - Lu, Jian
AU  - Lu J
FAU - Chen, Hanbiao
AU  - Chen H
FAU - Huang, Huamei
AU  - Huang H
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - Pallister Killian syndrome
MH  - *Chromosome Disorders/diagnosis
MH  - Chromosomes, Human, Pair 12
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Microarray Analysis
MH  - Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2019/05/06 06:00
MHDA- 2019/08/14 06:00
CRDT- 2019/05/06 06:00
PHST- 2019/05/06 06:00 [entrez]
PHST- 2019/05/06 06:00 [pubmed]
PHST- 2019/08/14 06:00 [medline]
AID - 940636112 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.06.009 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):571-573. doi: 
      10.3760/cma.j.issn.1003-9406.2019.06.009.