The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p

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Nur B., Clark Ö., Cetin Z., Toylu A., Karaüzüm S., Mıhçı E.

Genetic Counseling, vol.27, no.2, pp.223-231, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 2
  • Publication Date: 2016
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.223-231
  • Keywords: Isochromosome 18p, Chromosomal disorder, Clinical features, TETRASOMY 18P, DIAGNOSIS
  • Akdeniz University Affiliated: Yes

Abstract

The clinical spectrum of a rare chromosomal abnormality: isochromosome 18p: Isochromosome 18p is a rare chromosomal disorder that occurs with a frequency of approximately one in every 180,000 live births, and affects both genders equally. Most cases result from a de novo formation. In the literature, there are currently only a small number of reports that describe the phenotypic and clinical features of Isochromosome 18p. In this article, we report six cases that displayed the phenotypic and clinical features of Isochromosome 18p, and which were subsequently confirmed by conventional karyotyping and fluorescence in situ hybridization. We also discuss the clinical features of these patients in the context of the cases previously reported in the literature.