Partial Deletion of Short Arms of Chromosome No. 5

Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome no. 4.

“…4 on the basis of the phenotype, is now described with Wolf-Hirschhorn syndrome (Carter et al, 1969). As in our case, the parents who have been examined show normal karyotypes (Leao et al, 1967;Carter et al, 1969;Hijmans and Shearin, 1965;Hirschhorn et al, 1965;Miller et al, 1966a;Pfeiffer, 1968).…”

“…Low ridge counts in this syndrome have been reported by Wolf et al (1965) and Warburton and Miller (1967), though the latter investigators found no significant differences in dermatoglyphs between 'cri-du-chat' and Wolf-Hirschhom syndromes. Hypoplastic ridges (Leao et al, 1967;Hijmans and Shearin, 1965;Miller et al, 1966a;Pfeiffer, 1968;Taylor, 1968;Wolf et al, 1965), t' triradius (Hijmans and Shearin, 1965;Hirschhom et al, 1965;Wolf et al, 1965), and a high proportion of finger tip arches (Hirschhorn et al, 1965) have been reported. Buccal smears from the child show negative sex chromatin.…”

“…In 11 reported cases of Wolf-Hirschhorn syndrome (Ledo et al, 1967;Giorgi et al, 1965;Hijmans and Shearin, 1965;Hirschhorn et al, 1965;Miller et al, 1966a, b;Pfeiffer, 1968;Sidbury et al, 1964;Taylor, 1968;Wolf et al, 1965) the chromosomal abnormality is a partial deletion of the short arms of a B chromosome; in 6 instances, the chromosome was identified as No. 4 by autoradiography studies (Leao et al, 1967;Miller et al, 5 1966a, b;Pfeiffer, 1968;Wolf et al, 1965).…”

Medical Disorders with Associated Dermatoglyphic Abnormalities

“…Apart from the references cited in the text, dermatoglyphic data were pooled from the following sources: Arias et al (1970), Carneiro et al (1967), Carter et al (1969), Citoler et al (1971, Fryns et al (1973), Golbus et al (1973), Guthrie et al (1971), Hijmans and Shearin (1965), Hirschhorn et al (1965), , Pfeiffer (1968), Subrt and Blehova (1972), Subrt et al (1969), and Wilson et al (1970).…”

Cri du chat syndrome.

“…Since the description of the first three cases of the 'cri du chat' syndrome by Lejeune, Lafourcade, Berger, Vialatte, Boeswillwald, Seringe, and Turpin (1963), 12 patients have been reported on in whom part of the short arms of a chromosome in the 4-5 group were absent (Lejeune, Lafourcade, de Grouchy, and Berger, 1964b;Punnett, Carpenter, and DiGeorge, 1964;Book, Atkins, and Santesson, 1963; de Grouchy, Arthuis, Salmon, Lamy, and Thieffry, 1964;Dumars, Gaskill, and Kitzmiller, 1964;Macintyre, Staples, LaPolla, and Hempel, 1964;McCracken and Gordon, 1965;Hijmans and Shearin, 1965; Dyggve and Mikkelsen, 1965). The clinical features have all been similar; with characteristic cry, severe mental retardation, microcephaly, moon face, hypertelorism, epicanthus, antimongoloid slant of palpebral fissures, low-set ears, and abnormal dermatoglyphics.…”