Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene

Eleanor S. Click, Barbara Cox, Susan B. Olson, Markus Grompe, Yassmine Akkari, Lisa A. Moreau, Akiko Shimamura, Darci L. Sternen, Yajuan J. Liu, Kathleen A. Leppig, Dana C. Matthews, Melissa A. Parisi

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth. Because of her physical and hematologic abnormalities, she was tested for Fanconi anemia (FA). Lymphocytes and fibroblasts from this patient demonstrated increased chromosome breakage with exposure to the clastogen mitomycin C, but not, in contrast to most FA patients, to diepoxybutane. Further testing by Western analysis and complementation testing did not show a defect in the function of known Fanconi proteins. Her constitutional deletion was later found to span 13.2Mb by chromosome microarray analysis, encompassing the RUNX1 gene that has been implicated in thrombocytopenia and predisposition to acute myelogenous leukemia (AML) when in the haploinsufficient state. We compare her phenotype to other individuals with similar 21q deletions and thrombocytopenia, as well as those with FA. We suggest that deletion of RUNX1 or another critical gene within the deleted region may result in chromosomal instability similar to that seen in FA.

Original languageEnglish (US)
Pages (from-to)1673-1679
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
StatePublished - Jul 2011


  • Chromosome 21q
  • Chromosome breakage
  • Chromosome microarray
  • Fanconi anemia
  • Intellectual disability
  • RUNX1
  • Thrombocytopenia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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