PMID- 29652999
OWN - NLM
STAT- MEDLINE
DCOM- 20180823
LR  - 20180823
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 35
IP  - 2
DP  - 2018 Apr 10
TI  - [Application of single nucleotide polymorphism microarray and fluorescence in 
      situ hybridization analysis for the prenatal diagnosis of a case with 
      Pallister-Killian syndrome].
PG  - 232-235
LID - 10.3760/cma.j.issn.1003-9406.2018.02.019 [doi]
AB  - OBJECTIVE: To explore the clinical and genetic characteristics of a case with 
      Pallister-Killian syndrome (PKS). METHODS: Chromosomal karyotype of umbilical 
      cord blood sample derived from a 36-year-old pregnant woman was analyzed by 
      G-banding analysis. After birth, the child was further analyzed with single 
      nucleotide polymorphism microarray (SNP array) and fluorescence in situ 
      hybridization (FISH) using 12pter/12qter probes. RESULTS: G-banding analysis 
      showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]. After birth, 
      Affymetrix CytoScan 750K array analysis showed a segmental tetrasomy of arr 
      [hg19] 12p13.33p11.1(173 786 - 34 835 641)x4 and a 34.6 Mb repeat at 
      12p13.33p11.1 with in the neonate. FISH analysis confirmed that 39% of cells 
      harbored the 12p tetrasomy. CONCLUSION: Combined clinical examination, G-banded 
      chromosomal karyotyping, FISH and microarray analysis can delineate the origin 
      and fragments of small supernumerary marker chromosomes and diagnose PKS with 
      precision.
FAU - Zhang, Wenling
AU  - Zhang W
AD  - Department of Clinical Laboratory, General Hospital of PLA, Beijing 100853, 
      China. wangcb301@126.com.
FAU - Guo, Zhichao
AU  - Guo Z
FAU - Wang, Weiwei
AU  - Wang W
FAU - Sun, Yonghui
AU  - Sun Y
FAU - Zhang, Chenxi
AU  - Zhang C
FAU - Wang, Xiaofei
AU  - Wang X
FAU - Zhang, Liwen
AU  - Zhang L
FAU - Wang, Chengbin
AU  - Wang C
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
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Disorders/*diagnosis
MH  - Chromosomes, Human, Pair 12
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Oligonucleotide Array Sequence Analysis
MH  - *Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
EDAT- 2018/04/14 06:00
MHDA- 2018/08/24 06:00
CRDT- 2018/04/14 06:00
PHST- 2018/04/14 06:00 [entrez]
PHST- 2018/04/14 06:00 [pubmed]
PHST- 2018/08/24 06:00 [medline]
AID - 940635047 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2018.02.019 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):232-235. doi: 
      10.3760/cma.j.issn.1003-9406.2018.02.019.