|Description:||This infant’s hand demonstrated the presence of a single transverse palmar crease, which is formed by the fusion of the normally-present two palmar creases, i.e., the heart line and head line. In this particular case, this congenital anomaly was due to the autosomal deletion syndrome known as Cri-du-chat (cat-cry), involving the deletion of some of the chromosomal material from the short arm of chromosome 5 (5p-). See PHIL 12505 for the karyotype of the Cri-du-chat chromosomal configuration.|
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.