• deletions
  • Progressive loss of mutated SAMD9 through the development of monosomy 7 (-7), deletions of 7q (7q-), and secondary somatic loss-of-function (nonsense and frameshift) mutations in SAMD9 rescued the growth-restricting effects of mutant SAMD9 proteins in bone marrow and was associated with increased length of survival. (ovid.com)
  • novo
  • De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency," Prenatal Diagnosis , vol. 26, no. 3, pp. 206-213, 2006. (hindawi.com)
  • disease
  • Predictive analysis of disease characteristics of Monosomy 7 and Sub-clustering of this segment along with identification of therapy options for treatment of this cohort using computational biology modeling (CBM). (bloodjournal.org)