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Conference Paper: Inverted duplication 18q12.1-q22

TitleInverted duplication 18q12.1-q22
Authors
Issue Date2011
PublisherHong Kong Paediatric Society. The Journal's web site is located at http://www.hkjpaed.org/
Citation
The 2011 Joint Annual Scientific Meeting of the Hong Kong Paediatric Society (HKPS) and American Academy of Pediatrics (AAP) in conjunction with Hong Kong Paediatric Nurses Association (HKPNA), Hong Kong, 4-5 June 2011. In. Hong Kong Journal of Paediatrics (new series), 2011, v. 16 n.3, p. 215 How to Cite?
AbstractBACKGROUND: Partial duplications over the long arm of Chromosome 18 have been associated with congenital heart disease, multiple dysmorphism, seizure, growth retardation and developmental delay. Genotype-phenotype correlation, however, is still controversial, as is the association with the full Trisomy 18 phenotype. We report a Chinese infant with an inverted duplication involving a novel region within Chromosome 18q. CASE REPORT: The proposita was born to a nonconsanguineous healthy Chinese couple. Dysmorphism was noted and ventricular septal defect (VSD), secundum atrial septal defect (ASD), patent ductus arteriosus (PDA) as well as coarctation of aorta were detected. Karyotyping of the patient, followed by multicolour fluorescence in-situ hybridization and multicolour banding suggested an inverted duplication of 18q12.1 to q22 over the long arm of Chromosome 18. Array comparative genomic hybridization demonstrated a copy number gain between 18q12.1 and 18q22.1 (Genomic coordinates: Chr 18: 30273585-62939673) with an estimated size of 32.67- 32.74Mb. Maternal karyotype was normal, and that of the father was not available. DISCUSSION: The inverted duplication carried by our patient is to our knowledge, previously unreported. Features observed in the index patient were comparable to those described in patients with partial duplication involving and distal to 18q21. The absence of a classical Trisomy 18 phenotype in our patient also supported the hypothesis of proximal and distal critical regions in Edwards syndrome, with the proposed distal region lying within 18q22.3-qter.
DescriptionPoster Presentation (Doctor’s Session)
Open Access Journal
Persistent Identifierhttp://hdl.handle.net/10722/137464
ISSN
2014 Impact Factor: 0.133
2014 SCImago Journal Rankings: 0.126

 

DC FieldValueLanguage
dc.contributor.authorLiu, APYen_US
dc.contributor.authorHo, Aen_US
dc.contributor.authorYung, TCen_US
dc.contributor.authorTam, Ten_US
dc.contributor.authorChan, Ken_US
dc.contributor.authorLau, Een_US
dc.contributor.authorTang, Men_US
dc.contributor.authorTan, TYen_US
dc.contributor.authorChung, Ben_US
dc.date.accessioned2011-08-26T14:25:39Z-
dc.date.available2011-08-26T14:25:39Z-
dc.date.issued2011en_US
dc.identifier.citationThe 2011 Joint Annual Scientific Meeting of the Hong Kong Paediatric Society (HKPS) and American Academy of Pediatrics (AAP) in conjunction with Hong Kong Paediatric Nurses Association (HKPNA), Hong Kong, 4-5 June 2011. In. Hong Kong Journal of Paediatrics (new series), 2011, v. 16 n.3, p. 215en_US
dc.identifier.issn1013-9923-
dc.identifier.urihttp://hdl.handle.net/10722/137464-
dc.descriptionPoster Presentation (Doctor’s Session)-
dc.descriptionOpen Access Journal-
dc.description.abstractBACKGROUND: Partial duplications over the long arm of Chromosome 18 have been associated with congenital heart disease, multiple dysmorphism, seizure, growth retardation and developmental delay. Genotype-phenotype correlation, however, is still controversial, as is the association with the full Trisomy 18 phenotype. We report a Chinese infant with an inverted duplication involving a novel region within Chromosome 18q. CASE REPORT: The proposita was born to a nonconsanguineous healthy Chinese couple. Dysmorphism was noted and ventricular septal defect (VSD), secundum atrial septal defect (ASD), patent ductus arteriosus (PDA) as well as coarctation of aorta were detected. Karyotyping of the patient, followed by multicolour fluorescence in-situ hybridization and multicolour banding suggested an inverted duplication of 18q12.1 to q22 over the long arm of Chromosome 18. Array comparative genomic hybridization demonstrated a copy number gain between 18q12.1 and 18q22.1 (Genomic coordinates: Chr 18: 30273585-62939673) with an estimated size of 32.67- 32.74Mb. Maternal karyotype was normal, and that of the father was not available. DISCUSSION: The inverted duplication carried by our patient is to our knowledge, previously unreported. Features observed in the index patient were comparable to those described in patients with partial duplication involving and distal to 18q21. The absence of a classical Trisomy 18 phenotype in our patient also supported the hypothesis of proximal and distal critical regions in Edwards syndrome, with the proposed distal region lying within 18q22.3-qter.-
dc.languageengen_US
dc.publisherHong Kong Paediatric Society. The Journal's web site is located at http://www.hkjpaed.org/-
dc.relation.ispartofHong Kong Journal of Paediatrics (new series)en_US
dc.relation.ispartof香港兒科醫學雜誌-
dc.titleInverted duplication 18q12.1-q22en_US
dc.typeConference_Paperen_US
dc.identifier.emailLiu, APY: apyliu@hku.hken_US
dc.identifier.emailYung, TC: tcyung@hkusua.hku.hken_US
dc.identifier.emailLau, E: etklau@hkucc.hku.hken_US
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_US
dc.identifier.emailTan, TY: tanty@hku.hken_US
dc.identifier.emailChung, B: bhychung@hku.hken_US
dc.identifier.authorityLiu, APY=rp01357en_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.identifier.hkuros189715en_US
dc.identifier.hkuros185911-
dc.identifier.volume16-
dc.identifier.issue3-
dc.identifier.spage215-
dc.identifier.epage215-
dc.publisher.placeHong Kong-

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