PMID- 34964975
OWN - NLM
STAT- MEDLINE
DCOM- 20211231
LR  - 20211231
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 39
IP  - 1
DP  - 2022 Jan 10
TI  - [Genetic analysis of a case with mosaicism of a small supernumerary marker 
      chromosome derived from idic(15)].
PG  - 85-88
LID - 10.3760/cma.j.cn511374-20200626-00475 [doi]
AB  - OBJECTIVE: To determine the origin of a mosaicism small supernumerary marker 
      chromosome (sSMC) by cytogenetic and molecular analysis. METHODS: Karyotype 
      analysis, fluorescence in situ hybridization (FISH) and SNP-array were carried 
      out. RESULTS: The karyotype of the patient was 
      mos47,XX,+mar[45]/48,XX,+2mar[3]/46,XX[52]; the SNP-array result was 
      arr[hg19]15q11.1q11.2 (20 161 372-24 314 675)x3, and the repeat fragment was 
      about 4.15 Mb. FISH showed that approximately 50% of the cells have contained a 
      sSMC with double D15Z1 probe site segments derived from abnormal idic(15). This 
      sSMC did not contain SNRPN and PML probe fragments of Prader-Willi 
      syndrome/Angelman syndrome. CONCLUSION: When the patient's karyotype and 
      phenotype are inconsistent, cytogenetic and molecular biology technologies should 
      be combined to clarify the karyotype and gene location, so as to provide more 
      accurate genetic consultation for the follow-up treatments.
FAU - Shao, Minjie
AU  - Shao M
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking 
      University Third Hospital, National Clinical Research Center for Obstetrics and 
      Gynecology; Key Laboratory of Assisted Reproduction (Peking University), Ministry 
      of Education; Beijing Key Laboratory of Reproductive Endocrinology and Assisted 
      Reproductive Technology, Beijing 100191, China. pingliu7703@sina.com.
FAU - Wang, Yun
AU  - Wang Y
FAU - Zhao, Nan
AU  - Zhao N
FAU - Liu, Ping
AU  - Liu P
LA  - chi
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  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 15
MH  - Comparative Genomic Hybridization
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - *Mosaicism
EDAT- 2021/12/30 06:00
MHDA- 2022/01/01 06:00
CRDT- 2021/12/29 12:37
PHST- 2021/12/29 12:37 [entrez]
PHST- 2021/12/30 06:00 [pubmed]
PHST- 2022/01/01 06:00 [medline]
AID - 940639019 [pii]
AID - 10.3760/cma.j.cn511374-20200626-00475 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):85-88. doi: 
      10.3760/cma.j.cn511374-20200626-00475.