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Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion.

dc.contributor.authorInan, C.
dc.contributor.authorUzun, I
dc.contributor.authorOzdemir, M.
dc.contributor.authorHas, Recep
dc.contributor.authorErzincan, S.
dc.contributor.authorAlici, E.
dc.date.accessioned2021-03-03T17:42:39Z
dc.date.available2021-03-03T17:42:39Z
dc.date.issued2016
dc.identifier.citationUzun I., Has R., Alici E., Ozdemir M., Inan C., Erzincan S., "Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion.", Balkan journal of medical genetics : BJMG, cilt.19, sa.1, ss.103-106, 2016
dc.identifier.issn1311-0160
dc.identifier.othervv_1032021
dc.identifier.otherav_4b05af31-6895-492e-a390-ca87349179d4
dc.identifier.urihttp://hdl.handle.net/20.500.12627/53875
dc.identifier.urihttps://doi.org/10.1515/bjmg-2016-0014
dc.description.abstractChromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences. To the best of our knowledge, this is the first reported case of a first trimester presentation of a 13 short arm satellite deletion with markedly increased nuchal translucency (NT). In this case, the 13p short arm satellite deletion was associated with increased NT in two pregnancies from the same couple.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTıbbi Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.titleRecurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion.
dc.typeMakale
dc.relation.journalBalkan journal of medical genetics : BJMG
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume19
dc.identifier.issue1
dc.identifier.startpage103
dc.identifier.endpage106
dc.contributor.firstauthorID234220


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