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

Overview

MeSH Major

  • Alzheimer Disease
  • Apolipoproteins E
  • Disclosure
  • Genetic Counseling
  • Genetic Predisposition to Disease

abstract

  • 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. © 1970 The C. V. Mosby Company.

publication date

  • January 1970

Research

keywords

  • Academic Article

Identity

Digital Object Identifier (DOI)

  • 10.1016/S0022-3476(70)80237-2

PubMed ID

  • 5504070

Additional Document Info

start page

  • 792

end page

  • 801

volume

  • 77

number

  • 5