ABSTRACT
Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal) submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs) or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our results showed that spectral karyotyping identified the chromosomal origin of marker chromosomes or the source of derivative chromosomal material in 158 (88%) of the 179 clinical cases; the identification rate was slightly higher for postnatal (89%) compared to prenatal (84%) cases. Cases in which the origin could not be identified had either a small marker chromosome present at a very low level of mosaicism (< 10%), or contained very little euchromatic material. Supplemental FISH analysis confirmed the spectral karyotyping results in all 158 cases. Clinical indications for prenatal cases were mainly for marker identification after amniocentesis. For postnatal cases, the primary indications were developmental delay and multiple congenital anomalies (MCA). The most frequently encountered markers were of chromosome 15 origin for satellited chromosomes, and chromosomes 2 and 16 for non-satellited chromosomes. We were able to obtain pertinent clinical information for 47% (41/88) of cases with an identified abnormal chromosome. We conclude that spectral karyotyping is sufficiently reliable for use and provides a valuable diagnostic tool for establishing the origin of supernumerary marker chromosomes or derivative chromosomal material that cannot be identified with standard cytogenetic techniques.
ABSTRACT
Physical activity (PA) and poor fruit/vegetable intake are contributors of health disparities among African Americans (AA). In order to design effective interventions to address these behaviors, it is essential to assess where individuals are in terms of their attitudes and decisions. The aim of this study was to use the Stages of Change Model to assess AA's attitudes and decisions regarding pertinent health behaviors and provide suggestions about how to address them. A survey was administered to 242 low-income, medically underserved adults (47% AA, 27% White, and 26% "Others"). The majority was in the SOC's: "contemplation" stage for PA (they were considering PA); "maintenance" stage for vegetable intake (they had consumed > or =3 vegetable servings daily for > or =6 months); and in the "contemplation" stage for fruit intake (those grouped as "Others" were significantly more likely to be in the "maintenance" stage). Although education and awareness are important, this study has implications for interventions with greater emphasis on creating environments or providing resources to promote or support behavioral change.
