Cri-du-chat syndrome

The cri-du-chat syndrome is due to a large deletion of the terminal short arm of chromosome 5. The size of the deletion may be different in each patient, but it always encompasses chromosomal bands 5p15.2 and 5p15.3. The representation of chromosome 5 (on the left) indicates the deletion breakpoint that was identified in 1 patient. The shortened p-arm of a chromosome 5, stained by GTG (G-banding with trypsin and Giemsa)-banding, is shown on the right. For comparison, a chromosome 5 from a normal individual is placed in the middle. The boxed fragment indicates the extent of the deletion in the affected chromosome.