PMID- 31400138
OWN - NLM
STAT- MEDLINE
DCOM- 20190924
LR  - 20190925
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 8
DP  - 2019 Aug 10
TI  - [Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman 
      with intellectual disability].
PG  - 826-288
LID - 10.3760/cma.j.issn.1003-9406.2019.08.018 [doi]
AB  - OBJECTIVE: To assess the value of combined cytogenetic and molecular techniques 
      for the prenatal diagnosis of a pregnant woman with intellectual disability (ID). 
      METHODS: The fetus and its parents were subjected to G-banding karyotyping 
      analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in 
      situ hybridization (FISH) analysis. RESULTS: G-banding karyotype analysis 
      revealed that the woman has carried a chromosomal microdeletion 
      46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. 
      Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the 
      microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus 
      were diagnosed with Jacobsen syndrome. CONCLUSION: Combined use of cytogenetic 
      and molecular genetic techniques can facilitate diagnosis of patients with 
      intellectual disability.
FAU - Guo, Caiqin
AU  - Guo C
AD  - Center of Prenatal Diagnosis, Wuxi Maternity and Child Health Care Hospital 
      Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214002, China. 
      our163@163.com.
FAU - Wang, Junfeng
AU  - Wang J
FAU - Tang, Ye
AU  - Tang Y
FAU - Shi, Hao
AU  - Shi H
FAU - Liu, Jun
AU  - Liu J
FAU - Zhao, Li
AU  - Zhao L
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 Deletion
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Intellectual Disability
MH  - Jacobsen Distal 11q Deletion Syndrome/*diagnosis
MH  - Karyotyping
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2019/08/11 06:00
MHDA- 2019/09/26 06:00
CRDT- 2019/08/11 06:00
PHST- 2019/08/11 06:00 [entrez]
PHST- 2019/08/11 06:00 [pubmed]
PHST- 2019/09/26 06:00 [medline]
AID - 940636174 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.08.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):826-288. doi: 
      10.3760/cma.j.issn.1003-9406.2019.08.018.