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231224s2013 xx ||||| 00| ||chi c |
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|a (NLM)24495766
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a chi
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| 100 |
1 |
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|a Geng, Qian
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a One case of 2q37 deletion syndrome
|b clinical and genetic diagnosis
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| 264 |
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1 |
|c 2013
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 04.09.2014
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|a Date Revised 07.06.2016
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|a published: Print
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|a Citation Status MEDLINE
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| 520 |
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|a OBJECTIVE: To diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome
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|a METHOD: Following conventional chromosome preparation, G banded karyotyping was performed.Genomic DNA was extracted using standard procedures, which were then analyzed by array-CGH and MLPA
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|a RESULT: The patient presented with a typical face, special fist posture and congenital heart disease in 2q37 deletion syndrome. A 4.709 Mb deletion at 2q37.3 (chr2:237, 967, 852-242, 677, 269.NCBI36/hg18, including genes from COL6A3 toPDCD1) was detected by array-CGH. The results of MLPA and G banded karyotyping confirmed the existence of this deletion
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| 520 |
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|a CONCLUSION: 2q37.3 deletion was determined to be the cryptic cause of this case.2q37 deletion syndrome has some clinically recognizable characteristics. And array-CGH is a powerful technique for the accurate diagnosis and genotype-phenotype correlation study of this syndrome
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| 650 |
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4 |
|a Case Reports
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| 650 |
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4 |
|a English Abstract
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| 650 |
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4 |
|a Journal Article
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| 650 |
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4 |
|a Research Support, Non-U.S. Gov't
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| 700 |
1 |
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|a Xie, Jian-sheng
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wu, Wei-qing
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Luo, Fu-wei
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Chen, Wu-bin
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 51(2013), 12 vom: 03. Dez., Seite 934-7
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnns
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| 773 |
1 |
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|g volume:51
|g year:2013
|g number:12
|g day:03
|g month:12
|g pages:934-7
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