PMID- 33834469
OWN - NLM
STAT- MEDLINE
DCOM- 20210514
LR  - 20210514
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 4
DP  - 2021 Apr 10
TI  - [Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting 
      from a translocation involving chromosome satellite].
PG  - 373-375
LID - 10.3760/cma.j.cn511374-20200219-00090 [doi]
AB  - OBJECTIVE: To carry out cyto- and molecular genetic testing for a child featuring 
      facial dysmorphism and attention deficit and hyperactive disorder. METHODS: The 
      child was subjected to routine peripheral blood lymphocyte chromosomal 
      karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide 
      polymorphism array (SNP-array) analyses. RESULTS: The child's facial dysmorphism 
      included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril 
      notch, short and flat philtrum and thin upper lip. SNP-array revealed that he has 
      carried a 4.883 Mb deletion at 2q37. His chromosomal karyotype was ultimately 
      determined as 45, XY, der(2;21) (2pter--> 2q37.3::21p13--> 21p10::20p10--> 20pter), 
      der(20) (21qter--> 21q10::20q10--> 20qter). CONCLUSION: A rare case of 2q37 deletion 
      syndrome involving three chromosomes was discovered. Combined use of various 
      cyto- and molecular genetic techniques is crucial for the diagnosis of 
      chromosomal abnormalities with complex structures.
FAU - Zhang, Zhenhua
AU  - Zhang Z
AD  - Henan Provincial Key Laboratory for Children's Genetic and Metabolic Diseases, 
      Children's Hospital Affiliated to Zhengzhou University, Henan Provincial 
      Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, 
      China. li-dongxiao@sina.com.
FAU - Zhao, Shaoli
AU  - Zhao S
FAU - Song, Jijun
AU  - Song J
FAU - Li, Rui
AU  - Li R
FAU - Zhang, Yaodong
AU  - Zhang Y
FAU - Li, Dongxiao
AU  - Li D
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  - Chromosome 2q37 deletion syndrome
SB  - IM
MH  - Child
MH  - *Chromosome Deletion
MH  - Chromosomes
MH  - Chromosomes, Human, Pair 2
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Translocation, Genetic
EDAT- 2021/04/10 06:00
MHDA- 2021/05/15 06:00
CRDT- 2021/04/09 06:41
PHST- 2021/04/09 06:41 [entrez]
PHST- 2021/04/10 06:00 [pubmed]
PHST- 2021/05/15 06:00 [medline]
AID - 940638081 [pii]
AID - 10.3760/cma.j.cn511374-20200219-00090 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Apr 10;38(4):373-375. doi: 
      10.3760/cma.j.cn511374-20200219-00090.