44. Karyotype and cytogenomic analysis essential in interpreting Xp-ter trisomy in a female infant with multiple anomalies

A late preterm female infant presented to the NICU with IUGR, hypoglycemia, hypotonia, a VSD, poor postnatal growth, feeding intolerance, and dysmorphic craniofacial features. Microarray analysis identified a 23.7 Mb duplication of the Xp22.33p22.11 region. The karyotype was found to be 46,XX, der(11)t(X;11)(p22.1p15.5)dn. Telomere-associated repeat FISH confirmed that both the 11p and Xp telomere regions were intact on the p arm of the derivative chromosome as well as on the normal chromosome 11 and both normal X chromosomes.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research