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Ring chromosome 13 in an infant girl

dc.contributor.authorJodeiry, B
dc.contributor.authorRahmani, SA
dc.contributor.authorJavaherizadeh, H
dc.contributor.authorMirnia, K
dc.date.accessioned2018-08-26T09:33:56Z
dc.date.available2018-08-26T09:33:56Z
dc.date.issued2014
dc.identifier10.3126/jnps.v34i1.7961
dc.identifier.urihttp://dspace.tbzmed.ac.ir:8080/xmlui/handle/123456789/57666
dc.description.abstractRing chromosome 13, is an uncommon genetic syndrome. We report a girl infant with ring chromosome 13. She is 2nd offspring of family. She had no family history of genetic disorder. Karyotype showed 46xx,r(13). She had hypertelorism, wide nasal bridge, and long philtrum. She is the first report of ring chromosome 13 in Iranian children.
dc.language.isoEnglish
dc.relation.ispartofJournal of Nepal Paediatric Society
dc.subjectAges and Stages Questionnaire
dc.subjectarticle
dc.subjectcase report
dc.subjectchromosome analysis
dc.subjectcommunication disorder
dc.subjectdevelopmental disorder
dc.subjectear malformation
dc.subjectfemale
dc.subjectfetus echography
dc.subjectfollow up
dc.subjectgestational age
dc.subjecthead circumference
dc.subjecthuman
dc.subjecthypertelorism
dc.subjectinfant
dc.subjectIran
dc.subjectkaryotype 46,XX
dc.subjectlong philtrum
dc.subjectmicrocephaly
dc.subjectmotor retardation
dc.subjectnose malformation
dc.subjectoligohydramnios
dc.subjectphysical examination
dc.subjectptosis
dc.subjectring chromosome
dc.subjectring chromosome 13
dc.subjectscreening test
dc.subjectwide nasal bridge
dc.titleRing chromosome 13 in an infant girl
dc.typeLetter
dc.citation.volume34
dc.citation.issue1
dc.citation.spage74
dc.citation.epage76
dc.citation.indexScopus


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