PMID- 20376795
OWN - NLM
STAT- MEDLINE
DCOM- 20100628
LR  - 20111117
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 27
IP  - 2
DP  - 2010 Apr
TI  - [Cytogenetic and molecular characterization of partial trisomy 4q and partial 
      monosomy 10q in a patient].
PG  - 153-7
LID - 10.3760/cma.j.issn.1003-9406.2010.02.008 [doi]
AB  - OBJECTIVE: To ascertain the karyotype of a girl with moderate mental retardation 
      and growth retardation, perform correlation analysis between chromosomal 
      variation and phenotype, and investigate the application and superiority of 
      array-based comparative genomic hybridization (array-CGH) in clinical cytogenetic 
      diagnosis. METHODS: G-banded chromosome analysis, array-CGH, fluorescence in situ 
      hybridization (FISH) and real-time quantitative PCR (RQ-PCR) were used to 
      ascertain the karyotype of the patient and her relatives. RESULTS: G-banding 
      analysis of the patient showed a derivative chromosome 10 with an extra fragment 
      on its long arm terminal, both her father and grandmother had an apparently 
      balanced translocation t(4;10)(q25;q26). Array-CGH revealed that the breakpoint 
      on chromosome 4 was located at 4q26. In addition, a microdeletion of about 0.54 
      Mb del(10)(q26.3) was identified from the patient. FISH and RQ-PCR confirmed that 
      the del(10)(q26.3) was also present in both her father and grandmother. 
      CONCLUSION: No recognizable phenotype was associated with del(10)(q26.3). The 
      abnormal phenotypes presented in the patient may be ascribed to the 4q26-q35.2 
      triplication. Further more, compared with conventional cytogenetic analysis, 
      array-CGH is of high resolution and high accuracy.
FAU - Zhang, Yan-liang
AU  - Zhang YL
AD  - Key Laboratory of Laboratory Medical Diagnostics of Ministry of Education, 
      Faculty of Laboratory Medicine, Chongqing Medical University, Chongqing, P.R. 
      China.
FAU - Dai, Yong
AU  - Dai Y
FAU - Tu, Zhi-guang
AU  - Tu ZG
FAU - Li, Qi-yun
AU  - Li QY
FAU - Wang, Lin-qian
AU  - Wang LQ
FAU - Zhang, Li
AU  - Zhang L
FAU - Zeng, Jun
AU  - Zeng J
FAU - Ouyang, Zhi-bin
AU  - Ouyang ZB
LA  - chi
PT  - Case Reports
PT  - English Abstract
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  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Comparative Genomic Hybridization
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Trisomy/*genetics
EDAT- 2010/04/09 06:00
MHDA- 2010/06/29 06:00
CRDT- 2010/04/09 06:00
PHST- 2010/04/09 06:00 [entrez]
PHST- 2010/04/09 06:00 [pubmed]
PHST- 2010/06/29 06:00 [medline]
AID - 940627029 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2010.02.008 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):153-7. doi: 
      10.3760/cma.j.issn.1003-9406.2010.02.008.