Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

@article{Rosenfeld2012ProximalMA,
  title={Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes},
  author={Jill A Rosenfeld and Ryan N. Traylor and Gerald Bradley Schaefer and Elizabeth McPherson and Blake C. Ballif and Eva Klopocki and Stefan Mundlos and Lisa G Shaffer and Arthur S. Aylsworth},
  journal={European Journal of Human Genetics},
  year={2012},
  volume={20},
  pages={754-761}
}
Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been more extensively studied than proximal microdeletions and microduplications. Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR… CONTINUE READING

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