PMID- 34625941
OWN - NLM
STAT- MEDLINE
DCOM- 20211012
LR  - 20211012
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 10
DP  - 2021 Oct 10
TI  - [Non-invasive prenatal testing and genetic diagnosis of a case of 
      Pallister-Killian syndrome].
PG  - 997-1001
LID - 10.3760/cma.j.cn511374-20201016-00724 [doi]
AB  - OBJECTIVE: To apply combined non-invasive prenatal testing (NIPT), chromosomal 
      karyotyping and chromosomal microarray for the screening and prenatal diagnosis 
      of a fetus with supernumerary small marker chromosome (sSMC). METHODS: Standard 
      NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated 
      from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out 
      for the woman for an abnormal NIPT result. G-banded karyotyping and single 
      nucleotide polymorphism array (SNP array) were used to determine the karyotype 
      and copy number variants in the fetus. The result was validated with a 
      fluorescence in situ hybridization (FISH) assay. RESULTS: Both the standard NIFTY 
      and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which 
      the T score value of copy number anomaly in full gene NIFTY is 6.823, which is 
      higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results 
      were both above the normal threshold +/- 3. Conventional G-banding analysis of 
      amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array 
      delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)x 4, 
      which was verified by FISH. Based on the above results, the fetus was diagnosed 
      as a novel case of Pallister-Killian syndrome. CONCLUSION: NIPT has a certain 
      value for the prenatal detection of PKS. Combined use of multiple techniques can 
      facilitate delineation of the source of sSMC.
FAU - Wang, Junyu
AU  - Wang J
AD  - Prenatal Diagnosis Center, Quanzhou Women and Children's Health Care Hospital, 
      Quanzhou, Fujian 362000, China. wybslj@163.com.
FAU - Zhuang, Jianlong
AU  - Zhuang J
FAU - Jiang, Yuying
AU  - Jiang Y
FAU - Fu, Wanyu
AU  - Fu W
FAU - Wang, Yuanbai
AU  - Wang Y
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  - *Chromosome Disorders/diagnosis/genetics
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
EDAT- 2021/10/10 06:00
MHDA- 2021/10/13 06:00
CRDT- 2021/10/09 06:29
PHST- 2021/10/09 06:29 [entrez]
PHST- 2021/10/10 06:00 [pubmed]
PHST- 2021/10/13 06:00 [medline]
AID - 940638210 [pii]
AID - 10.3760/cma.j.cn511374-20201016-00724 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):997-1001. doi: 
      10.3760/cma.j.cn511374-20201016-00724.