Article
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.
American journal of medical genetics - 1 Feb 1990
Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H
Abstract excerpt
Two patients with monosomy for the distal portion of the short arm of chromosome 3 are described. Chromosome analysis on prometaphase cells demonstrated a karyotype of 46,XX,del(3) (p25.3) in one patient and 46,XX,r(3)(p26.1q29) in the other. The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput,...
Topics
- Chromosome Deletion
- Chromosomes, Human, Pair 3
- Face
- Failure to Thrive
- Female
- Growth Disorders
- Humans
- Infant
- Intellectual Disability
- Karyotyping