Molecular and clinical characterization of patients with overlapping 10p deletions.

@article{Lindstrand2010MolecularAC,
  title={Molecular and clinical characterization of patients with overlapping 10p deletions.},
  author={Anna Lindstrand and H Malmgren and Annapia Verri and Elisa Benetti and Maud Eriksson and Ann Nordgren and B M Anderlid and Irina Golovleva and Jacqueline Schoumans and Elisabeth Blennow},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 5},
  pages={1233-43}
}
Chromosome 10p terminal deletions have been associated with DiGeorge phenotype, and within the same genomic region haploinsufficiency of GATA3 causes the HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia). We have performed detailed molecular analysis of four patients with partial overlapping 10p deletions by using FISH-mapping, array-CGH, and custom-designed high-resolution oligonucleotide array. All four patients had mental retardation and speech impairment and three… CONTINUE READING