The two year old proband has multiple malformations and severe developmental delay. Her karyotype is 46, XY, -9, +rec(9), dup p, inv(9)(q22.1q34.3)mat, with a net duplication of 9pter←q22.1 and ...
Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it ...