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., ...Daha Fazla

MOLECULAR CYTOGENETICS, cilt.11, 2018 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1186/s13039-018-0390-4
  • Dergi Adı: MOLECULAR CYTOGENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Chromosome 21, Partial monosomy, Deletion, Duplication, Partial uniparental disomy, DEVELOPMENTAL DELAY, DYSMORPHIC FEATURES, PARTIAL TRISOMY, ARRAY-CGH, 21Q, PATIENT, TRANSLOCATION, PHENOTYPE, CHILD, FISH
  • Gazi Üniversitesi Adresli: Hayır

Özet

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