Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies


Su M., Benke P. J. , Bademci G., Cengiz F. B. , Ouyang X., Peng J., ...More

MOLECULAR CYTOGENETICS, vol.11, 2018 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11
  • Publication Date: 2018
  • Doi Number: 10.1186/s13039-018-0390-4
  • Journal Name: MOLECULAR CYTOGENETICS
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Keywords: Chromosome 21, Partial monosomy, Deletion, Duplication, Partial uniparental disomy, DEVELOPMENTAL DELAY, DYSMORPHIC FEATURES, PARTIAL TRISOMY, ARRAY-CGH, 21Q, PATIENT, TRANSLOCATION, PHENOTYPE, CHILD, FISH

Abstract

Background: Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes.