PMID- 34964974
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 case with 2q37 microdeletion syndrome].
PG  - 81-84
LID - 10.3760/cma.j.cn511374-20201020-00730 [doi]
AB  - OBJECTIVE: To diagnose and fine map a deletion in chromosome region 2q37. 
      METHODS: G-banded chromosomal karyotyping, multiplex ligation-dependent probe 
      amplification (MLPA), single nucleotide polymorphism array (SNP-array), and 
      fluorescence in situ hybridization (FISH) were carried out in conjunct for the 
      analysis. RESULTS: The patient was found to have karyotype of 46,XY,del(2)(q3?), 
      MLPA revealed one copy number of both CAPN10-3 and ATG4B-7 genes from the 2q37.3 
      region, Both parents were found to be normal upon chromosome karyotyping and 
      MLPA. SNP-array has found a 9.7 Mb deletion in the 2q37.1.37.3 region. FISH 
      analysis has confirmed there is a single copy for 2q37.3. CONCLUSION: Combination 
      of MLPA, FISH and SNP-array have enabled accurate diagnosis for the patient, and 
      also provided more clues for the correlation of genotype with the phenotype of 
      the disease, and a basis for genetic counseling.
FAU - Lian, Xiaohui
AU  - Lian X
AD  - Laboratory of Basic Medicine, Dongfang Hospital (900th Hospital of Joint 
      Logistics Support Force), Xiamen University, Fuzhou, Fujian 350025, China. 
      zengjian1980222@163.com.
FAU - Zhang, Xiao
AU  - Zhang X
FAU - Huang, Mingyan
AU  - Huang M
FAU - Lin, Juan
AU  - Lin J
FAU - Zeng, Jian
AU  - Zeng J
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 Banding
MH  - *Chromosome Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Phenotype
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 - 940639018 [pii]
AID - 10.3760/cma.j.cn511374-20201020-00730 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):81-84. doi: 
      10.3760/cma.j.cn511374-20201020-00730.