Partial Deletion of Short Arm of a Chromosome of the 4‐5 Group (Denver) in an Adult Male

The Cri Du Chat Syndrome: Neuropathologic Observations*

“…The one adult (Berg, et al, 1965) to be observed, a male, was said to have normal external genitalia, while the three adolescent females reported (Bergman, et al, 1965;Hijmans and Shearin, 1965; and the present case), were under-developed with no significant breast enlargement, although one girl .was thought to have an enlarged clitoris (Bergman, ct al., 1965). Pubic hair was observed in two of the girls.…”

“…Both abnormal (de Almeida, ct al, 1964;Dumars, et al, 1964;Hustinx and Wijffels, 1965;Milunsky and Chithani, 1966;Punnett, ct al., 1964) and normal (Berg, et al, 1965;Dyggve and Mikkelsen, 1965;Lejeune, t( al, 1964b;Ricci, et al, 1965) electroencephalograms have been reported. No specific or characteristic abnormalities have been described.…”

“…4-without the cri du chat syndrome. Berg, et al (1965) have recorded a partial deletion of the short arms of a Bgroup chromosome in a severely retarded 33 year old male, whose cry supposedly never was described as being cat-like. These authors believe that the variations observed in the syndrome may be a reflection of different degrees of shortening of the involved chromosome.…”

“…There bas been no observation of pyramidal tract disease, although one patient was described as having a spastic, shuffling gait (Bergman, et at., 1965). The gait has also been described as waddling (Berg, et al, 1965). The majority of cases reported to date have been infants; however, older children and adolescents have shown a profound delay in the usual developmental milestones.…”