title: Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay.
abstract: This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.
authors.affiliation: Division of Genomics, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, India.
authors.forename: Divya
authors.initials: D
authors.lastname: Bose
authors.forename: Venkatesh
authors.initials: V
authors.lastname: Krishnamurthy
authors.forename: K S
authors.initials: KS
authors.lastname: Venkatesh
authors.forename: Mohamed
authors.initials: M
authors.lastname: Aiyaz
authors.forename: Mitesh
authors.initials: M
authors.lastname: Shetty
authors.forename: Sudha N
authors.initials: SN
authors.lastname: Rao
authors.forename: A V M
authors.initials: AV
authors.lastname: Kutty
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D057215:Body Dysmorphic Disorders / Q000235:genetics*; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D014314:Trisomy / Q000235:genetics*