PMID- 37994123
OWN - NLM
STAT- MEDLINE
DCOM- 20231127
LR  - 20231127
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 12
DP  - 2023 Dec 10
TI  - [Prenatal genetic diagnosis of a case with ring chromosome 13].
PG  - 1455-1460
LID - 10.3760/cma.j.cn511374-20220705-00451 [doi]
AB  - OBJECTIVE: To carry out cyto- and molecular genetic analysis for a fetus with a 
      ring chromosome identified through non-invasive prenatal testing (NIPT). METHODS: 
      A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical 
      University on May 11, 2021 was selected as the study subject. Maternal peripheral 
      blood sample was screened by NIPT, and G-banded chromosomal karyotyping was 
      carried out on amniotic fluid and peripheral blood samples from the couple. The 
      fetus and the pregnant woman were also subjected to genomic copy number variation 
      sequencing (CNV-seq), chromosomal microarray analysis (CMA), and fluorescence in 
      situ hybridization (FISH) assay. RESULTS: NIPT result suggested that the fetus 
      had monomeric mosaicism or fragment deletion on chromosome 13. G banded 
      chromosomal analysis showed that both the fetus and its mother had a karyotype of 
      47,XX,der(13)(pter-->p11::q22-->q10),+r(13)(::p10::q22-->qter::), whilst her husband 
      had a normal karyotype. FISH has verified the above results. No abnormality was 
      detected with CNV-seq and CMA in both the fetus and the pregnant woman. 
      CONCLUSION: The ring chromosome 13 in the fetus has derived from its mother 
      without any deletion, duplication and mosaicism. Both the fetus and the pregnant 
      woman were phenotypically normal.
FAU - Sun, Lu
AU  - Sun L
AD  - Department of Clinical Genetics, Shengjing Hospital Affiliated to China Medical 
      University, Shenyang, Liaoning 110003, China. her@sj-hospital.org.
FAU - Wen, Juan
AU  - Wen J
FAU - Chu, Guoming
AU  - Chu G
FAU - Lai, Guangrui
AU  - Lai G
FAU - He, Rong
AU  - He R
LA  - chi
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  - Chromosome 13 ring
SB  - IM
MH  - Humans
MH  - Pregnancy
MH  - Female
MH  - *Ring Chromosomes
MH  - Chromosomes, Human, Pair 13/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - DNA Copy Number Variations
MH  - Prenatal Diagnosis/methods
MH  - Amniotic Fluid
EDAT- 2023/11/23 06:42
MHDA- 2023/11/27 12:44
CRDT- 2023/11/23 03:50
PHST- 2023/11/27 12:44 [medline]
PHST- 2023/11/23 06:42 [pubmed]
PHST- 2023/11/23 03:50 [entrez]
AID - 940640249 [pii]
AID - 10.3760/cma.j.cn511374-20220705-00451 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1455-1460. doi: 
      10.3760/cma.j.cn511374-20220705-00451.