PMID- 34487533
OWN - NLM
STAT- MEDLINE
DCOM- 20210908
LR  - 20220531
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 9
DP  - 2021 Sep 10
TI  - [Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete 
      deletion type of Duchenne muscular dystrophy].
PG  - 869-872
LID - 10.3760/cma.j.cn511374-20200324-00196 [doi]
AB  - OBJECTIVE: To identify the etiology of a patient with severe symptoms of DMD and 
      to trace its pathogenic gene, so as to provide a basis for genetic counseling and 
      clinical intervention. METHODS: Multiple ligation-dependent probe amplification 
      (MLPA) technique was used to analyze exon deletion/repetitive variant of DMD 
      gene, and further analysis was performed by chromosome G-banding, fluorescence in 
      situ hybridization (FISH) and SNP array analysis. RESULTS: The MLPA results of 
      the proband showed that the exon 1-79 of DMD gene were deleted, the G-banding 
      karyotype of blood sample was 46, XY, and the deletion of the short arm of X 
      chromosome was found by FISH. SNP array results showed that 5.8Mb (29 628 158-35 
      434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the 
      patient was diagnosed as the contiguous deletion syndrome involving the genes of 
      IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM47, and 
      FAM47B. CONCLUSION: The exact pathogenic site of this family is the deletion of 
      5.8 Mb (29 628 158-35 434 714) in the Xp21.2p21.1 region of X chromosome, which 
      can be used for prenatal diagnosis. High resolution SNP array technique plays an 
      important role in detecting potential chromosome abnormalities in patients.
FAU - Liu, Lina
AU  - Liu L
AD  - Center of Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First 
      Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. 
      kongxd@263.net.
FAU - Wang, Li
AU  - Wang L
FAU - Jiao, Zhihui
AU  - Jiao Z
FAU - Kong, Xiangdong
AU  - Kong X
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
RN  - 0 (Dystrophin)
SB  - IM
MH  - Dystrophin/genetics
MH  - Exons
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Muscular Dystrophy, Duchenne/diagnosis/genetics
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2021/09/07 06:00
MHDA- 2021/09/09 06:00
CRDT- 2021/09/06 17:08
PHST- 2021/09/06 17:08 [entrez]
PHST- 2021/09/07 06:00 [pubmed]
PHST- 2021/09/09 06:00 [medline]
AID - 940638183 [pii]
AID - 10.3760/cma.j.cn511374-20200324-00196 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):869-872. doi: 
      10.3760/cma.j.cn511374-20200324-00196.