PMID- 36453970
OWN - NLM
STAT- MEDLINE
DCOM- 20221206
LR  - 20221206
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 39
IP  - 12
DP  - 2022 Dec 10
TI  - [Genetic analysis of a case with a supernumerary marker derived from chromosome 
      9].
PG  - 1410-1414
LID - 10.3760/cma.j.cn511374-20211027-00854 [doi]
AB  - OBJECTIVE: To delineate a small supernumerary marker chromosome (sSMC) derived 
      from chromosome 9 with combined cytogenetic and molecular methods. METHODS: For a 
      pregnant woman with fetal ultrasound revealing left ventricular punctate 
      hyperechoic echo, and a high risk for monosomy or partial deletion of chromosome 
      8, chromosome 9 trisomy, monosomy or partial deletion of chromosome 11 by 
      non-invasive prenatal testing, and an abnormal MOM value revealed by mid-term 
      serum screening, amniocentesis was performed for G banded chromosomal analysis 
      and single nucleotide polymorphism array (SNP-array) assay. Peripheral blood 
      samples of the woman and her spouse were also collected for the above tests. In 
      addition, the woman was further subjected to C banding karyotyping analysis and 
      fluorescence in situ hybridization (FISH) assay. RESULTS: The G-banded karyotype 
      of the pregnant women was 47,XX,+mar[20]/46,XX[80], whilst C-banding analysis 
      showed a deep stain in the middle of the sSMC (suggestive of centromeric region) 
      and light stain at both ends (suggestive of euchromatism). FISH combined with 
      DAPI banding analysis using 9pter/9qter probes revealed a karyotype of 
      47,XX,+mar.ish i(9)(9p10)(9p++)[2]/46,XX[18], whilst SNP-array has revealed a 
      68.1 Mb duplication in the 9p24.3q13 region. A database search has suggested the 
      duplication to be likely pathogenic. No abnormality was found in her fetus and 
      spouse by karyotyping and SNP-array analysis. CONCLUSION: Through combined 
      cytogenetic and molecular genetic analysis, a sSMC derived from chromosome 9 was 
      delineated, which has enabled genetic counseling for the couple.
FAU - Zhuang, Qianmei
AU  - Zhuang Q
AD  - Center of Prenatal Diagnosis, Quanzhou Maternal and Child Health Care Hospital, 
      Quanzhou Children's Hospital, Quanzhou, Fujian 362000, China. wybslj@163.com.
FAU - Yan, Meizhen
AU  - Yan M
FAU - Jiang, Yuying
AU  - Jiang Y
FAU - Chen, Xinying
AU  - Chen X
FAU - Zhang, Na
AU  - Zhang N
FAU - Lyu, Chunling
AU  - Lyu C
FAU - Wu, Jialing
AU  - Wu J
FAU - Wang, Yuanbai
AU  - Wang Y
LA  - chi
PT  - Case Reports
PT  - English Abstract
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  - 0 (Biomarkers)
SB  - IM
MH  - Female
MH  - Humans
MH  - Pregnancy
MH  - Biomarkers
MH  - *Chromosomes, Human, Pair 9/genetics
MH  - *Genetic Testing
MH  - In Situ Hybridization, Fluorescence
MH  - Monosomy
EDAT- 2022/12/02 06:00
MHDA- 2022/12/06 06:00
CRDT- 2022/12/01 09:14
PHST- 2022/12/01 09:14 [entrez]
PHST- 2022/12/02 06:00 [pubmed]
PHST- 2022/12/06 06:00 [medline]
AID - 940639264 [pii]
AID - 10.3760/cma.j.cn511374-20211027-00854 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Dec 10;39(12):1410-1414. doi: 
      10.3760/cma.j.cn511374-20211027-00854.