Partial Deletion of Short Arms of 5
Summary
This photographic collage depicts the karyotype that would represent the chromosomal configuration known as an autosomal deletion syndrome, which has been given the name, cri-du-chat. In this particular case, the cells in a person with cri-du-chat syndrome contained an abnormal chromosomal complement, which involved the deletion of some of the chromosomal material from the short arms of chromosome 5 (5p-), as indicated by the arrow. Cri-du-chat syndrome was the first recognized syndrome due to a chromosomal deletion, in 1963. Aspects of the syndrome manifest themselves as mental retardation, microcephaly, round face, and a laryngeal anomaly that causes infants to sound like a cat when crying, hence its moniker.
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