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

@article{Scheps2016MultipleCN,
  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},
  year={2016},
  volume={170},
  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.

References

SHOWING 1-10 OF 27 REFERENCES
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.
...
1
2
3
...