PMID- 36585012
OWN - NLM
STAT- MEDLINE
DCOM- 20230103
LR  - 20230103
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 1
DP  - 2023 Jan 10
TI  - [Genetic features of a case with mosaic ring chromosome 4 and a review of the 
      literature].
PG  - 105-109
LID - 10.3760/cma.j.cn511374-20210424-00358 [doi]
AB  - OBJECTIVE: To explore the genetic basis, clinical phenotype and pathogenesis for 
      a child with mosaicism ring chromosome 4. METHODS: Clinical data of the child was 
      collected. Peripheral blood chromosomal karyotype G banding analysis, chromosomal 
      microarray analysis (CMA), fluorescence in situ hybridization (FISH) were carried 
      out for the child, in addition with a review of the literature. RESULTS: The 
      child was born full-term with low birth weight, facial dysmorphism, patent ductus 
      arteriosus and ventricular septal defect. His karyotype was determined as 
      mos46,XY,r(4)(p16.3q35.2)[259]/45,XY,-4[25]/47,XY,r(4)(p16.3q35.2), 
      +r(4)(p16.3q35.2)[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dic?r(4;4)(p16.3q35.2;p16.3q35.2)[4]/48,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)x2[3]/46,XY,r(4)(p1?q2?)[2]; 
      CMA result was arr[GRCH37]4p16.3(68 345-2 981 614)x1; FISH result was 
      45,XY,-4[12]/45,XY,-4x2,+mar1.ish r1(4)(WHS-,D4Z1+)[1]/ 
      46,XY,-4,+mar1.ishr1(4)(WHS-,D4Z1+)[73]/46,XY,-4,+mar2.ishr2(4)(WHS-,D4Z1++)[1]/47,XY,-4,+mar1x2.ishr1(4) 
      (WHS-, D4Z1+)x2[4]/46,XY,del(4)(p16.3).ish del(4)(p16.3)(WHS-,D4Z1+)[9]. 
      CONCLUSION: In this case, the ring chromosome 4 as a de novo variant has produced 
      a number of cell lines during embryonic development and given rise to mosaicism. 
      The clinical phenotype of ring chromosome 4 is variable. The instability of the 
      ring chromosome itself, presence of mosaicism, chromosome breakpoint and range of 
      deletion and/or duplication may all affect the ultimate phenotype.
FAU - Ma, Canling
AU  - Ma C
AD  - Department of Laboratory Medicine, Tengzhou Maternal and Child Health Care 
      Hospital, Tengzhou, Shandong 277599, China. jyf690629@163.com.
FAU - Wang, Yingying
AU  - Wang Y
FAU - Zhen, Na
AU  - Zhen N
FAU - Shao, Changxi
AU  - Shao C
FAU - Zhang, Daoling
AU  - Zhang D
FAU - Jiang, Yan
AU  - Jiang Y
FAU - Du, Yu
AU  - Du Y
FAU - Jia, Yifang
AU  - Jia Y
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Review
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
SB  - IM
MH  - Humans
MH  - Pregnancy
MH  - Female
MH  - *Ring Chromosomes
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Karyotype
MH  - Mosaicism
EDAT- 2022/12/31 06:00
MHDA- 2023/01/04 06:00
CRDT- 2022/12/30 20:12
PHST- 2022/12/30 20:12 [entrez]
PHST- 2022/12/31 06:00 [pubmed]
PHST- 2023/01/04 06:00 [medline]
AID - 940640022 [pii]
AID - 10.3760/cma.j.cn511374-20210424-00358 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):105-109. doi: 
      10.3760/cma.j.cn511374-20210424-00358.