Partial hexasomy 15pter→15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report

Gelijkaardige items

• Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review
  door: Heller, A., et al.
  Gepubliceerd in: (2000)
• Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature
  door: Li, Haiyu, et al.
  Gepubliceerd in: (2018)
• A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter).
  door: Smith, A, et al.
  Gepubliceerd in: (1982)
• De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).
  door: Herr, H M, et al.
  Gepubliceerd in: (1983)
• About classical molecular genetics, cytogenetic and molecular cytogenetic data not considered by Genome Reference Consortium and thus not included in genome browsers like UCSC, Ensembl or NCBI
  door: Liehr, Thomas
  Gepubliceerd in: (2021)