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

BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplicati...

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Detalles Bibliográficos
Autores principales: Kurtulgan, Hande Küçük, Özer, Leyla, Yıldırım, Malik Ejder, Ünsal, Evrim, Aktuna, Süleyman, Baltacı, Volkan, Akkuş, Nejmiye, Sezgin, İlhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654821/
https://www.ncbi.nlm.nih.gov/pubmed/26594242
http://dx.doi.org/10.1186/s13039-015-0195-7
Descripción
Sumario:BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation. CONCLUSIONS: 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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