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Article: Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection

TitleMaternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection
Authors
Issue Date1997
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, 1997, v. 71 n. 2, p. 160-166 How to Cite?
AbstractA 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies had the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der(1)t(1;4) (4qter→4q33:: 1p36.13→1qter),der(4)t(1;4)inv(4)(4pter→ 4q31.3::1p36.33→1p36.13::4q33→4q31.3:: 1p36.33→1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosomes regions and breakpoints. © 1997 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/150726
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChen, Zen_US
dc.contributor.authorGrebe, TAen_US
dc.contributor.authorGuan, XYen_US
dc.contributor.authorNotohamiprodjo, Men_US
dc.contributor.authorNutting, PJen_US
dc.contributor.authorStone, JFen_US
dc.contributor.authorTrent, JMen_US
dc.contributor.authorSandberg, AAen_US
dc.date.accessioned2012-06-26T06:09:16Z-
dc.date.available2012-06-26T06:09:16Z-
dc.date.issued1997en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, 1997, v. 71 n. 2, p. 160-166en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/150726-
dc.description.abstractA 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies had the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der(1)t(1;4) (4qter→4q33:: 1p36.13→1qter),der(4)t(1;4)inv(4)(4pter→ 4q31.3::1p36.33→1p36.13::4q33→4q31.3:: 1p36.33→1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosomes regions and breakpoints. © 1997 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Geneticsen_US
dc.subject.meshAbnormalities, Multiple - Geneticsen_US
dc.subject.meshChromosome Aberrationsen_US
dc.subject.meshChromosome Bandingen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, Pair 1 - Genetics - Ultrastructureen_US
dc.subject.meshChromosomes, Human, Pair 4 - Genetics - Ultrastructureen_US
dc.subject.meshCraniofacial Abnormalities - Geneticsen_US
dc.subject.meshDna Probesen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Diseases - Geneticsen_US
dc.subject.meshGrowth Disorders - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshMaleen_US
dc.subject.meshMetaphaseen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshSyndromeen_US
dc.subject.meshTranslocation, Geneticen_US
dc.titleMaternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissectionen_US
dc.typeArticleen_US
dc.identifier.emailGuan, XY:xyguan@hkucc.hku.hken_US
dc.identifier.authorityGuan, XY=rp00454en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid9217215-
dc.identifier.scopuseid_2-s2.0-0030741203en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030741203&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume71en_US
dc.identifier.issue2en_US
dc.identifier.spage160en_US
dc.identifier.epage166en_US
dc.identifier.isiWOS:A1997XG89400008-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridChen, Z=7409491627en_US
dc.identifier.scopusauthoridGrebe, TA=7004670178en_US
dc.identifier.scopusauthoridGuan, XY=7201463221en_US
dc.identifier.scopusauthoridNotohamiprodjo, M=6508174023en_US
dc.identifier.scopusauthoridNutting, PJ=7006649210en_US
dc.identifier.scopusauthoridStone, JF=7403061421en_US
dc.identifier.scopusauthoridTrent, JM=7201692482en_US
dc.identifier.scopusauthoridSandberg, AA=7202853810en_US

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