ABSTRACT
Analysis of G-banded prometaphase chromosomes from three XX males revealed extra bands on the distal end of one X short arm. These bands were similar both in size and staining properties to the distal Y short arm of their fathers (in the two cases examined) and also to other chromosomally normal males. The extra material on the abnormal X chromosomes was not C- or G-11 positive in the two cases examined, suggesting that the proximal Y long arm was not present. Previous karyotype-phenotype correlations with structurally altered Y chromosomes provided evidence for localization of male determinants on the Y short arm. The present findings in XX males provide support for more precise localization, to bands p11.2 leads to pter of Y short arm.
Subject(s)
Sex Chromosome Aberrations/genetics , Sex Chromosomes , Translocation, Genetic , X Chromosome , Y Chromosome , Adult , Chromosome Banding , Female , Humans , Infant, Newborn , Karyotyping , Male , PhenotypeABSTRACT
In 55 audits of 37 topics totaling 5,499 patient records, 94% of deficiencies were in the area of performance, while only 6% occurred in the area of lack of knowledge. In addition to defining problems, audit serves as an educational experience and a stimulus to improve practice.
