Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000 bp)x3.

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Bibliographic Details
Published in:Molecular Cytogenetics 2015, Vol.8 (92)
Main Authors: Kurtulgan, Hande Küçük, üzer, Leyla, Yildirim, Malik Ejder, Ãnsal, Evrim, Aktuna, Süleyman, Baltaci, Volkan, AkkuÅ, Nejmiye, Sezgin, Ä°lhan
Format: Report
Language:English
Subjects:
Care and treatment
Chromosomes
Mental retardation
Risk factors
Online Access:Get full text
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Description
Summary:14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000 bp)x3.
ISSN:1755-8166
1755-8166
DOI:10.1186/s13039-015-0195-7