PMID- 34964973
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 fetus with mosaicism of 13q inversion duplication].
PG  - 76-80
LID - 10.3760/cma.j.cn511374-20201109-00786 [doi]
AB  - OBJECTIVE: To report on a case of mosaicism 13q inversion duplication, analyze 
      its mechanism, and discuss the correlation between its genotype and phenotype. 
      METHODS: Amniotic fluid and umbilical cord blood were collected at 23 and 32 
      weeks of gestation, respectively. Combined with G-banding chromosome karyotyping 
      analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in 
      situ hybridization (FISH) were used to confirm the result. RESULTS: The karyotype 
      of the fetus was determined as 47,XY,+inv dup(13)(q14.3q34)/46,XY. After careful 
      counseling, the couple decided to continue with the pregnancy, and had given 
      birth to a boy at 40 weeks' gestation. Except for a red plaque (hemangioma) on 
      the nose bridge, no obvious abnormality (intelligence to be evaluated) was 
      discovered. CONCLUSION: To provide reference for clinical genetic counseling and 
      risk assessment, the location and proportion of new centromere formation should 
      be fully considered in the case of mosaicism 13q inversion duplication.
FAU - Luo, Tingting
AU  - Luo T
AD  - Shaoxing Maternal and Child Health Care Hospital, Shaoxing, Zhejiang 312000, 
      China. 286558459@qq.com.
FAU - Che, Ming
AU  - Che M
FAU - Cheng, Dehua
AU  - Cheng D
FAU - Zhang, Lifang
AU  - Zhang L
FAU - Zhang, Tao
AU  - Zhang T
FAU - Zeng, Yan
AU  - Zeng Y
LA  - chi
PT  - Case Reports
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  - *Amniocentesis
MH  - Chromosome Inversion/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis
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 - 940639017 [pii]
AID - 10.3760/cma.j.cn511374-20201109-00786 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):76-80. doi: 
      10.3760/cma.j.cn511374-20201109-00786.