PMID- 37643970
OWN - NLM
STAT- MEDLINE
DCOM- 20230831
LR  - 20230831
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 9
DP  - 2023 Sep 10
TI  - [Prenatal diagnosis and genetic analysis of a special case with complex 
      structural rearrangements of chromosome 8].
PG  - 1181-1184
LID - 10.3760/cma.j.cn511374-20220607-00392 [doi]
AB  - OBJECTIVE: To present on a prenatally diagnosed case with complex structural 
      rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal 
      microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were 
      carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype 
      of the amniotic fluid sample showed extra materials on 8p. FISH revealed a 
      centromeric signal at the terminal of 8p with absence of telomeric signal. CMA 
      revealed partial deletion of 8p23.3 [(208049_2256732)x1], partial duplication of 
      8p23.3p23.2 [(2259519_3016818)x3], and partial duplication of 8q 
      [8q11.1q12.2(45951900_60989083)x3]. CONCLUSION: The complex structural 
      rearrangements of chromosome 8 in this case has differed from the commonly seen 
      inv dup del(8p).
FAU - Zeng, Yan
AU  - Zeng Y
AD  - Prenatal Diagnosis Center, Shaoxing Women and Children's Hospital, Shaoxing, 
      Zhejiang 312000, China. 2560336019@qq.com.
FAU - Luo, Tingting
AU  - Luo T
FAU - Qian, Feiyan
AU  - Qian F
FAU - Cheng, Dehua
AU  - Cheng D
FAU - Chen, Caiping
AU  - Chen C
FAU - Fan, Jiaming
AU  - Fan J
FAU - Zhang, Lifang
AU  - Zhang L
FAU - Zhang, Tao
AU  - Zhang T
FAU - Li, Hongmei
AU  - Li H
FAU - Wu, Zhiqiang
AU  - Wu Z
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
SB  - IM
MH  - Female
MH  - Pregnancy
MH  - Humans
MH  - *Chromosomes, Human, Pair 8/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - *Gene Rearrangement
MH  - Prenatal Diagnosis
MH  - Centromere
EDAT- 2023/08/30 00:41
MHDA- 2023/08/31 06:41
CRDT- 2023/08/29 22:02
PHST- 2023/08/31 06:41 [medline]
PHST- 2023/08/30 00:41 [pubmed]
PHST- 2023/08/29 22:02 [entrez]
AID - 940640201 [pii]
AID - 10.3760/cma.j.cn511374-20220607-00392 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1181-1184. doi: 
      10.3760/cma.j.cn511374-20220607-00392.