Cytogenetic and molecular characterization of a three‐generation family with chromosome 5p terminal deletion

@article{Fang2008CytogeneticAM,
  title={Cytogenetic and molecular characterization of a three‐generation family with chromosome 5p terminal deletion},
  author={J-S Fang and K-F Lee and C-T Huang and Ciao-Ling Syu and K. J. Yang and L-H Wang and Dan Liao and C-H Chen},
  journal={Clinical Genetics},
  year={2008},
  volume={73}
}
Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri‐du‐chat syndrome (cat cry syndrome), which is characterized by a cat‐like cry in infancy, facial dysmorphism, microcephaly, and mental retardation. There is a high degree of variation in clinical presentations of patients with cri‐du‐chat syndrome, which is usually associated with different sizes and locations of deletions in chromosome 5p. Most patients with a 5p deletion have de novo… 

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TLDR
DNA clones mapping in the chromosomal region associated with the cat-like cry feature will allow for the distinction between 5p deletions that will result in the severe delay observed in most cri-du-chat syndrome patients and those deleting that result inThe isolated cat- like cry feature, which is associated with a better prognosis.

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TLDR
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TLDR
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TLDR
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