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

  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 C-L Syu and K-J Yang and L. Wang and D-L Liao and C. Chen},
  journal={Clinical Genetics},
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… Expand
19 Citations
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