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- Publisher Website: 10.1002/ajmg.1470
- Scopus: eid_2-s2.0-0035451501
- PMID: 11503167
- WOS: WOS:000170615600013
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Article: Pure trisomy 10p resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics
Title | Pure trisomy 10p resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics |
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Authors | |
Keywords | Chromosome microdissection Fluorescence in-situ hybridization Multiple congenital anomalies Spectral karyotyping |
Issue Date | 2001 |
Publisher | John Wiley & Sons, Inc. |
Citation | American Journal Of Medical Genetics, 2001, v. 102 n. 4, p. 379-382 How to Cite? |
Abstract | With the use of advanced molecular cytogenetic techniques, we have identified an extra ring chromosome consisting of the entire short arm of chromosome 10 (10p) in a 9-month-old girl with multiple congenital anomalies. This case represents another cytogenetic mechanism leading to the formation of pure complete trisomy 10p, which has not been reported previously. Pure trisomy 10p is rare. This case will further delineate those features associated with trisomy 10p. © 2001 Wiley-Liss, Inc. |
Persistent Identifier | http://hdl.handle.net/10722/71930 |
ISSN | |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Chen, Z | en_HK |
dc.contributor.author | MeloniEhrig, A | en_HK |
dc.contributor.author | Palumbos, JC | en_HK |
dc.contributor.author | Guan, XY | en_HK |
dc.contributor.author | Carroll, KL | en_HK |
dc.contributor.author | Dent, KM | en_HK |
dc.contributor.author | Carey, JC | en_HK |
dc.date.accessioned | 2010-09-06T06:36:36Z | - |
dc.date.available | 2010-09-06T06:36:36Z | - |
dc.date.issued | 2001 | en_HK |
dc.identifier.citation | American Journal Of Medical Genetics, 2001, v. 102 n. 4, p. 379-382 | en_HK |
dc.identifier.issn | 0148-7299 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/71930 | - |
dc.description.abstract | With the use of advanced molecular cytogenetic techniques, we have identified an extra ring chromosome consisting of the entire short arm of chromosome 10 (10p) in a 9-month-old girl with multiple congenital anomalies. This case represents another cytogenetic mechanism leading to the formation of pure complete trisomy 10p, which has not been reported previously. Pure trisomy 10p is rare. This case will further delineate those features associated with trisomy 10p. © 2001 Wiley-Liss, Inc. | en_HK |
dc.language | eng | en_HK |
dc.publisher | John Wiley & Sons, Inc. | en_HK |
dc.relation.ispartof | American Journal of Medical Genetics | en_HK |
dc.rights | American Journal of Medical Genetics. Copyright © John Wiley & Sons, Inc. | en_HK |
dc.subject | Chromosome microdissection | - |
dc.subject | Fluorescence in-situ hybridization | - |
dc.subject | Multiple congenital anomalies | - |
dc.subject | Spectral karyotyping | - |
dc.subject.mesh | Abnormalities, Multiple - diagnosis - genetics | en_HK |
dc.subject.mesh | Chromosomes, Human, Pair 10 - genetics | en_HK |
dc.subject.mesh | Cytogenetic Analysis - methods | en_HK |
dc.subject.mesh | Female | en_HK |
dc.subject.mesh | Gene Amplification - genetics | en_HK |
dc.subject.mesh | Humans | en_HK |
dc.subject.mesh | Infant | en_HK |
dc.subject.mesh | Ring Chromosomes | en_HK |
dc.subject.mesh | Trisomy - genetics | en_HK |
dc.title | Pure trisomy 10p resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0148-7299&volume=102&issue=4&spage=379&epage=382&date=2001&atitle=Pure+trisomy+10p+resulting+from+an+extra+ring+chromosome:+characterization+by+methods+of+advanced+molecular+cytogenetics | en_HK |
dc.identifier.email | Guan, XY:xyguan@hkucc.hku.hk | en_HK |
dc.identifier.authority | Guan, XY=rp00454 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1002/ajmg.1470 | en_HK |
dc.identifier.pmid | 11503167 | - |
dc.identifier.scopus | eid_2-s2.0-0035451501 | en_HK |
dc.identifier.hkuros | 72172 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0035451501&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 102 | en_HK |
dc.identifier.issue | 4 | en_HK |
dc.identifier.spage | 379 | en_HK |
dc.identifier.epage | 382 | en_HK |
dc.identifier.isi | WOS:000170615600013 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Chen, Z=7409491627 | en_HK |
dc.identifier.scopusauthorid | MeloniEhrig, A=6603143970 | en_HK |
dc.identifier.scopusauthorid | Palumbos, JC=6506096701 | en_HK |
dc.identifier.scopusauthorid | Guan, XY=7201463221 | en_HK |
dc.identifier.scopusauthorid | Carroll, KL=7202768010 | en_HK |
dc.identifier.scopusauthorid | Dent, KM=6701849380 | en_HK |
dc.identifier.scopusauthorid | Carey, JC=7402685816 | en_HK |
dc.identifier.issnl | 0148-7299 | - |