PMID- 27577223
OWN - NLM
STAT- MEDLINE
DCOM- 20170104
LR  - 20170105
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 33
IP  - 5
DP  - 2016 Oct
TI  - [Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a 
      supernumerary chromosome using single nucleotide polymorphism array].
PG  - 682-5
LID - 10.3760/cma.j.issn.1003-9406.2016.05.023 [doi]
AB  - OBJECTIVE: To explore the origin of a supernumerary small marker chromosome 
      (sSMC) in a fetus, and to assess the feasibility of single nucleotide 
      polymorphism array (SNP-array) for prenatal diagnosis. METHODS: The fetal sample 
      was subjected to karyotyping analysis. The identified sSMC was subjected to 
      genome-wide scan using a SNP microarray chip. The results were validated with 
      fluorescence in situ hybridization (FISH). RESULTS: The karyotype of the fetus 
      was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis 
      as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC 
      has originated from chromosome 12p. CONCLUSION: The karyotype of the fetus was 
      determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for 
      Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array 
      analysis can simultaneously detect microdeletions and microduplications, which 
      may be used for prenatal diagnosis of suspected cases.
FAU - Li, Suping
AU  - Li S
AD  - Center of Prenatal Diagnosis of Jiaxing Maternal and Child Health Hospital, 
      Jiaxing, Zhejiang 314000, China. Email: mzy2005@hotmail.com.
FAU - Shen, Huaxiang
AU  - Shen H
FAU - Jin, Yuxia
AU  - Jin Y
FAU - Liu, Xiaodan
AU  - Liu X
FAU - Song, Qinhao
AU  - Song Q
FAU - Miao, Zhengyou
AU  - Miao Z
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 Aberrations
MH  - Chromosome Banding
MH  - Chromosome Disorders/diagnostic imaging/embryology/*genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Female
MH  - Fetus/abnormalities/diagnostic imaging/metabolism
MH  - Genome-Wide Association Study/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Karyotyping
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - *Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Ultrasonography, Prenatal/*methods
EDAT- 2016/09/01 06:00
MHDA- 2017/01/05 06:00
CRDT- 2016/09/01 06:00
PHST- 2016/09/01 06:00 [entrez]
PHST- 2016/09/01 06:00 [pubmed]
PHST- 2017/01/05 06:00 [medline]
AID - 940633144 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.05.023 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):682-5. doi: 
      10.3760/cma.j.issn.1003-9406.2016.05.023.