For instance, deletions that span a centromere result in an acentric chromosome that will most likely be lost during cell division. As with duplications, deletions can affect gene dosage and thus ...

He was born at full term, weighing 6 pounds 3 ounces, to nonconsanguineous parents ... High-resolution chromosomes demonstrated classic KS with a 47,XXY karyotype. In addition, CGH microarray ...

In these cases, Down syndrome is caused by a translocation of chromosomes 15 and 21 (Figure 3), in which the long arms of two acrocentric chromosomes are translocated to produce a single long ...

A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 ...