PMID- 34625932
OWN - NLM
STAT- MEDLINE
DCOM- 20211012
LR  - 20211012
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 10
DP  - 2021 Oct 10
TI  - [Genetic analysis of a family with 9q34.3 microdeletion and microduplication 
      caused by abnormal chromosome balance structure].
PG  - 961-965
LID - 10.3760/cma.j.cn511374-20200413-00259 [doi]
AB  - OBJECTIVE: To perform prenatal diagnosis, pedigree analysis, and genetic 
      counseling of a pregnant woman who gave birth to a child with Kleefstra syndrome. 
      METHODS: Karyotype analysis, chromosomal microarray analysis (CMA), multiplex 
      ligation-dependent probe amplification (MLPA) and fluorescence in situ 
      hybridization (FISH) were used of peripheral blood and amniotic fluid to find 
      causes. Recurrence risk assessment was performed later. RESULTS: The amniotic 
      fluid sample showed a 9q34.3 microduplication of arr (hg19) 9q34.3 (140 168 
      806-141 020 389)x 3, which overlapped the 9q34.3 microdeletion region of proband. 
      The pregnant woman was detected with a balanced translocation of ish, 
      t(9;17)(9q34.3; qter) (9p+; 17p+,9q+, 17q+). No other abnormal results were found 
      in the family. CONCLUSION: Offspring who share the same chromosome segment 
      deletion or duplication are always from parent who carries balanced chromosomal 
      structural aberration.
FAU - Wang, Lijuan
AU  - Wang L
AD  - Forensic Evidence Laboratory, Shenzhen People's Hospital (The Second Clinical 
      Medical College,Jinan University; The First Affiliated Hospital, Southern 
      University of Science and Technology), Shenzhen, Guangdong 518020, China. 
      guohui600@163.com.
FAU - Gao, Hui
AU  - Gao H
FAU - Ma, Di
AU  - Ma D
FAU - Hu, Zhiyang
AU  - Hu Z
FAU - Lin, Linhua
AU  - Lin L
FAU - Hu, Wenlong
AU  - Hu W
FAU - Ye, Mei
AU  - Ye M
FAU - Guo, Hui
AU  - Guo H
LA  - chi
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  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
EDAT- 2021/10/10 06:00
MHDA- 2021/10/13 06:00
CRDT- 2021/10/09 06:29
PHST- 2021/10/09 06:29 [entrez]
PHST- 2021/10/10 06:00 [pubmed]
PHST- 2021/10/13 06:00 [medline]
AID - 940638201 [pii]
AID - 10.3760/cma.j.cn511374-20200413-00259 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):961-965. doi: 
      10.3760/cma.j.cn511374-20200413-00259.