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231224s2012 xx ||||| 00| ||chi c |
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|a pubmed25n0735.xml
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|a (DE-627)NLM22059435X
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|a (NLM)22931946
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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 Zhu, Chun-jiang
|e verfasserin
|4 aut
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1 |
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|a Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization
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1 |
|c 2012
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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 14.03.2013
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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 confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques
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|a METHOD: G-band karyotyping was performed for all the 6 members in the family. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the chromosome abnormality for the proband, his father and brother. Microarray comparative genomic hybridization (Array-CGH) was carried out to map the exact chromosomal breakpoints for the proband
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| 520 |
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|a RESULT: The proband presented with a typical face, delayed growth and hypotonia in Wolf-Hirschhorn syndrome. His G-band karyotype was 46, XY, der(4)t(4;8) (p16.2; p23.1)pat. MLPA showed 4pter loss and 8pter gain. Array-CGH revealed an XY male with a 3.781 Mb deletion of 4p16.3-p16.2 and a 6.760 Mb duplication of 8p23.3-p23.1. The proband's brother has mental retardation and skeletal abnormalities. His G-band karyotype was 46, XY, der(8)t(4;8)(p16.2;p23.1)pat. MLPA showed 4pter gain and 8pter loss. The proband's father had normal phenotype with a balanced translocation of 46, XY, t(4;8)(p16.2;p23.1)pat. MLPA showed a normal result. The proband's grandfather showed a normal phenotype with a balanced translocation 46, XY, t(4;8)(p16.2;p23.1). The other members in the family showed normal phenotypes with normal karyotypes
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| 520 |
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|a CONCLUSION: The proband has features of Wolf-Hirschhorn syndrome with partial monosomy 4p and partial trisomy 8p. The proband's brother has a partial trisomy 4p and partial monosomy 8p. The derived chromosomes are inherited from paternal balanced translocation t(4;8)(p16.2;p23.1)
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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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| 700 |
1 |
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|a Huang, Zhi-yun
|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 Zhao, Qin
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Jiang, Hai-yan
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Xie, Jian-sheng
|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 50(2012), 6 vom: 29. Juni, Seite 460-4
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnns
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| 773 |
1 |
8 |
|g volume:50
|g year:2012
|g number:6
|g day:29
|g month:06
|g pages:460-4
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|a AR
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|d 50
|j 2012
|e 6
|b 29
|c 06
|h 460-4
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