Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

  title={Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability},
  author={K. Scheps and L. Francipane and J. Nevado and N. Basack and M. Attie and Mar{\'i}a Fernanda Bergonzi and G. Cerrone and P. Lapunzina and V. Varela},
  journal={American Journal of Medical Genetics Part A},
  pages={986 - 991}
Two distinct syndromes that link α‐thalassemia and intellectual disability (ID) have been described: ATR‐X, due to mutations in the ATRX gene, and ATR‐16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. A critical region where the candidate genes for the ID map has been established. In a pediatric patient with Hemoglobin H disease, dysmorphic features and ID, 4 novel and clinically relevant Copy Number Variants were identified. PCR‐GAP, MLPA and… Expand
3 Citations
ATR-16 syndrome: mechanisms linking monosomy to phenotype
ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype
Genetics and pathophysiology of mammalian sulfate biology.


The deletion of SOX8 is not associated with ATR‐16 in an HbH family from Brazil
Clinical and molecular characterization of a second case of 7p22.1 microduplication
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH
A report of pure 7p duplication syndrome and review of the literature
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation
α-Thalassemia, mental retardation, and myelodysplastic syndrome.
  • R. Gibbons
  • Biology, Medicine
  • Cold Spring Harbor perspectives in medicine
  • 2012
A comprehensive analysis of common copy-number variations in the human genome.