PMID- 25636105
OWN - NLM
STAT- MEDLINE
DCOM- 20150616
LR  - 20150131
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 32
IP  - 1
DP  - 2015 Feb
TI  - [Prenatal diagnosis of a case of Pallister-Killian syndrome].
PG  - 73-6
LID - 10.3760/cma.j.issn.1003-9406.2015.01.016 [doi]
AB  - OBJECTIVE: To study the clinical and genetic characteristics of Pallister-Killian 
      syndrome and improve the diagnosis for this rare chromosomal disease. METHODS: 
      Standard G-banding was carried out for the patient and his parents. Single 
      nucleotide polymorphism array (SNP array) for copy number detection was applied 
      to identify chromosome microdeletion or microduplication. Interphase fluorescence 
      in situ hybridization (FISH) and cytogenetic analyses of fibroblast cells were 
      performed based on the Results of array. RESULTS: The patient's G-banded 
      karyotype has turned out to be 46,XY, whilst his parents were both normal. A 
      duplication of the whole short arm of chromosome 12 was detected by SNP array in 
      the child. The result of interphase FISH performed on interphase chromosomes 
      derived from peripheral blood cells was nucish (RP11-104 b5, a19 RP11-956) x 4 
      [19/100］, whilst the karyotype of fibroblast cells was 47,XY,+i(12) (p10 [44]/46, 
      XY[56]. CONCLUSION: By combining with clinical characteristics, SNP array, skin 
      fibroblasts karyotype analysis and FISH can diagnose Pallister-Killian syndrome 
      effectively.
FAU - Xi, Hui
AU  - Xi H
AD  - Center of Hunan Province Prenatal Diagnosis, Hunan Maternal and Chlid Health 
      Hospital, Changsha, Hunan 410008, P. R. China. Email: wanghua213@aliyun.com.
FAU - Wang, Hua
AU  - Wang H
FAU - Jia, Zhenjun
AU  - Jia Z
FAU - Zhou, Yuchun
AU  - Zhou Y
FAU - Yu, Hong
AU  - Yu H
FAU - Liu, Jing
AU  - Liu J
FAU - Wu, Lingqian
AU  - Wu L
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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  - Chromosome Banding
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2015/01/31 06:00
MHDA- 2015/06/17 06:00
CRDT- 2015/01/31 06:00
PHST- 2015/01/31 06:00 [entrez]
PHST- 2015/01/31 06:00 [pubmed]
PHST- 2015/06/17 06:00 [medline]
AID - 940632016 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2015.01.016 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):73-6. doi: 
      10.3760/cma.j.issn.1003-9406.2015.01.016.