PMID- 28604965
OWN - NLM
STAT- MEDLINE
DCOM- 20170914
LR  - 20170914
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 3
DP  - 2017 Jun 10
TI  - [Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 
      rearrangement].
PG  - 402-405
LID - 10.3760/cma.j.issn.1003-9406.2017.03.020 [doi]
AB  - OBJECTIVE: To analyze a case of supernumerary marker chromosome (SMC) with 
      combined genetic techniques and explore its correlation with the clinical 
      phenotype. METHODS: The SMC was analyzed with G-banded karyotyping, multiplex 
      ligation dependent probe amplification (MLPA), fluorescence in situ hybridization 
      (FISH), and single nucleotide polymorphism array (SNP-array). RESULTS: G-banding 
      analysis indicated that the patient has a karyotype of 47,XX,+mar. MLPA showed 
      that there were duplications of proximal 15q. FISH assay using D15Z4 probes 
      indicated that the SMC was a pseudodicentric chromosome derived from chromosome 
      15. And SNP-array revealed that there were two extra copies of 15q11-13 region 
      spanning from locus 20 161 372 to 29 071 810. CONCLUSION: The duplication of 
      Prader-Willi/Angelman syndrome critical region probably underlies the abnormal 
      phenotype of the inv dup(15) case with a BP3:BP3 rearrangement.
FAU - Zhong, Fuchun
AU  - Zhong F
AD  - Department of Clinical Genetics and Experimental Medicine, Fuzhou General 
      Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, China. 
      tuxdmed@126.com.
FAU - Lan, Fenghua
AU  - Lan F
FAU - Zhang, Xiao
AU  - Zhang X
FAU - Lin, Yuxiang
AU  - Lin Y
FAU - Lin, Yanhong
AU  - Lin Y
FAU - Yan, Aizhen
AU  - Yan A
FAU - Tu, Xiangdong
AU  - Tu X
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  - Isodicentric Chromosome 15 Syndrome
SB  - IM
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
EDAT- 2017/06/13 06:00
MHDA- 2017/09/15 06:00
CRDT- 2017/06/13 06:00
PHST- 2017/06/13 06:00 [entrez]
PHST- 2017/06/13 06:00 [pubmed]
PHST- 2017/09/15 06:00 [medline]
AID - 940634081 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.03.020 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):402-405. doi: 
      10.3760/cma.j.issn.1003-9406.2017.03.020.