Novel ocular findings with 5p deletion and partial trisomy of distal 4q

2.50
Hdl Handle:
http://hdl.handle.net/11287/620542
Title:
Novel ocular findings with 5p deletion and partial trisomy of distal 4q
Authors:
Lin, S.; Rawlins, Lettie; Turner, Claire L.; Doyle, E.; Sleep, T.
Abstract:
We report a novel combination of ocular findings in a patient with an unbalanced translocation involving breakpoints at 4q32.3 and 5p14.2, resulting in trisomy of the distal part of the long arm of chromosome 4 and monosomy of the tip of the short arm of chromosome 5, including the cri-du-chat syndrome “critical region” (karyotype 46,XY,der(5)t(4;5)(q32.3;p14.2).
Citation:
Novel ocular findings with 5p deletion and partial trisomy of distal 4q 2017 Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie
Publisher:
Elsevier
Journal:
Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie
Issue Date:
Oct-2017
URI:
http://hdl.handle.net/11287/620542
DOI:
10.1016/j.jcjo.2017.09.010
Additional Links:
http://linkinghub.elsevier.com/retrieve/pii/S0008418216310365
Type:
Case Report
Language:
en
ISSN:
00084182
Appears in Collections:
Clinical Genetics (Peninsula Genetics); 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorLin, S.en
dc.contributor.authorRawlins, Lettieen
dc.contributor.authorTurner, Claire L.en
dc.contributor.authorDoyle, E.en
dc.contributor.authorSleep, T.en
dc.date.accessioned2017-11-22T12:15:52Z-
dc.date.available2017-11-22T12:15:52Z-
dc.date.issued2017-10-
dc.identifier.citationNovel ocular findings with 5p deletion and partial trisomy of distal 4q 2017 Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologieen
dc.identifier.issn00084182-
dc.identifier.doi10.1016/j.jcjo.2017.09.010-
dc.identifier.urihttp://hdl.handle.net/11287/620542-
dc.description.abstractWe report a novel combination of ocular findings in a patient with an unbalanced translocation involving breakpoints at 4q32.3 and 5p14.2, resulting in trisomy of the distal part of the long arm of chromosome 4 and monosomy of the tip of the short arm of chromosome 5, including the cri-du-chat syndrome “critical region” (karyotype 46,XY,der(5)t(4;5)(q32.3;p14.2).en
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttp://linkinghub.elsevier.com/retrieve/pii/S0008418216310365en
dc.rightsArchived with thanks to Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologieen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Ophthalmologyen
dc.titleNovel ocular findings with 5p deletion and partial trisomy of distal 4qen
dc.typeCase Reporten
dc.identifier.journalCanadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologieen
dc.type.versionIn press (epub ahead of print)en
All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.