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Kurtulgan HK, Özer L, Yıldırım ME, et al. Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion. Mol Cytogenet. 2015;8:92doi: 10.1186/s13039-015-0195-7.
Kurtulgan, H. K., Özer, L., Yıldırım, M. E., Ünsal, E., Aktuna, S., Baltacı, V., Akkuş, N., & Sezgin, �. �. (2015). Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion. Molecular cytogenetics, 892. https://doi.org/10.1186/s13039-015-0195-7
Kurtulgan, Hande Küçük, et al. "Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion." Molecular cytogenetics vol. 8 (2015): 92. doi: https://doi.org/10.1186/s13039-015-0195-7
Kurtulgan HK, Özer L, Yıldırım ME, Ünsal E, Aktuna S, Baltacı V, Akkuş N, Sezgin İ. Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion. Mol Cytogenet. 2015 Nov 21;8:92. doi: 10.1186/s13039-015-0195-7. eCollection 2015. PMID: 26594242; PMCID: PMC4654821.
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Mol Cytogenet. 2015 Nov 21;8:92. doi: 10.1186/s13039-015-0195-7. eCollection 2015.

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

Molecular cytogenetics

Hande Küçük Kurtulgan, Leyla Özer, Malik Ejder Yıldırım, Evrim Ünsal, Süleyman Aktuna, Volkan Baltacı, Nejmiye Akkuş, İlhan Sezgin

Affiliations

  1. Cumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
  2. Mikrogen Genetic Diagnosis Center, Cinnah Street 47/1 Çankaya, Ankara, Turkey.
  3. Division of Histology and Embryology, Yeni Yüzy?l University School of Medicine, ?stanbul, Turkey.
  4. Medicine Division of Medical Biology and Genetics, Yeni Yüzy?l University School of Medicine, ?stanbul, Turkey.

PMID: 26594242 PMCID: PMC4654821 DOI: 10.1186/s13039-015-0195-7

Abstract

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.

Keywords: 14q duplication; Cardiac defects; Microcephaly; Pericentric inversion of chromosome 14

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