Diagnosing chromosomal abnormalities from "big" to "small" with molecular cytogenetic technology.

@article{Wilson2009DiagnosingCA,
  title={Diagnosing chromosomal abnormalities from "big" to "small" with molecular cytogenetic technology.},
  author={Robert Douglas Wilson and Claire Blight and Sylvie Langlois},
  journal={Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC},
  year={2009},
  volume={31 5},
  pages={414-21}
}
We reviewed the available molecular cytogenetic techniques and their potential use in prenatal diagnosis of fetuses with multiple congenital anomalies and a "normal" standard chromosomal karyotype. We searched Medline to identify reports published after 1995 that were related to molecular prenatal diagnosis. After review, we reached the following conclusions: 1. In fetuses with a normal standard karyotype result, common chromosomal microdeletion syndromes may be suspected based on the pattern… CONTINUE READING