PR. PHILIPPE VAGO, ISM / SCIENCE PHOTO LIBRARY PR. PHILIPPE VAGO, ISM / SCIENCE PHOTO LIBRARY
Light micrograph of chromosomes 5 of a patient with cri du chat (cat cry) syndrome. In cri du chat syndrome there is deletion of the distal part of the short arm of chromosomes 5. The deletion of the locus 5p15.2 can be seen in the standard karyotype (G banding or R banding, at centre) or demonstration by FISH with locus specific probe 5p15.2 or Comparative Genomic Hybridization (CGH) on metaphase. In this case, it is an intercalary deletion, the probes subtelomeriques of short arm (Tel5p) and of long arms (Tel5q). Young patients with cri du chat syndrome cry like a kitten due to affected larynx and nervous system. Other symptoms are severe cognitive, speech and motor delays.
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