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Partial deletion of the short arm of chromosome No. 4(4p-): Clinical studies in five unrelated patients

1970; Elsevier BV; Volume: 77; Issue: 5 Linguagem: Inglês

10.1016/s0022-3476(70)80237-2

1097-6833

Orlando J. Miller, W. Roy Breg, Dorothy Warburton, Dorothy A. Miller, Adriana deCapoa, P. W. Allderdice, Jessica G. Davis, H.P. Klinger, E. McGilvray, Fred H. Allen,

Congenital Ear and Nasal Anomalies

Five patients are described with a partial deletion of the short arm of a chromosome No. 4, which was identified autoradiographically. The 4p- syndrome can be distinguished from the cri du chat (5p-) syndrome by the absence of a catlike cry and the presence of a lower birth weight, more marked psychomotor retardation, a flat beaked nose with a fish-shaped mouth, seizures, cleft palate, coloboma of the iris, preauricular or sacral dimple or sinus, hypospadias, midline scalp defect, underdeveloped dermal ridges on palm and sole, lower finger ridge count, and delayed bone maturation. Five patients are described with a partial deletion of the short arm of a chromosome No. 4, which was identified autoradiographically. The 4p- syndrome can be distinguished from the cri du chat (5p-) syndrome by the absence of a catlike cry and the presence of a lower birth weight, more marked psychomotor retardation, a flat beaked nose with a fish-shaped mouth, seizures, cleft palate, coloboma of the iris, preauricular or sacral dimple or sinus, hypospadias, midline scalp defect, underdeveloped dermal ridges on palm and sole, lower finger ridge count, and delayed bone maturation.