Brief Report Adult Patient Presenting an Interstitial (9) ( q21.32q31.1) Direct Duplication Resulting from the Malsegregation of a Paternal Balanced Insertional Translocation

BackgroundThe partial trisomy 9q syndrome is a well-defined chromosomal disorder with over 40 reported cases in the literature. However, 9q duplications derived from an insertional translocation have rarely been reported. MethodsCytogenetic and molecular analyses using G-banding, fluorescence in situ hybridization, and single nucleotide polymorphism array were performed in a 25-year-old male patient with intellectual disability, behavioral abnormalities, speech delay, postnatal growth retardation, distinctive facial features, and pyloric stenosis. ResultsG-banding analysis showed an extra chromosome segment of unknown origin inserted into band 4q25. A 16,747,601 bp duplication of 9q21.32q31.1 inserted into band 4q25 and a balanced (4;9) insertional translocation were identified by single nucleotide polymorphism array and fluorescence in situ hybridization analysis respectively in the patient and his healthy father. A literature review was performed to refine genotype-phenotype correlation of the partial trisomy 9q syndrome. ConclusionThis is the first report on the molecular characterization of a partial trisomy 9q syndrome derived from an insertional translocation between nonhomologous chromosomes. Our findings provide important information for genetic counseling and prenatal diagnosis of future pregnancies in this family. Birth Defects Research (Part A) 100:294-299, 2014. (c) 2014 Wiley Periodicals, Inc.