title: De-novo 'pure' partial trisomy (6)(p22.3→pter): a case report and review of the literature.
abstract: Partial trisomy of the short arm of chromosome 6 is a rare and clinically distinct syndrome. The breakpoints have been found to be variable ranging from bands 6p11 to 6p25. This study reports partial trisomy for 6p22.3→pter in a 2-year-old boy referred with a complaint of developmental delay and facial dysmorphism. Conventional cytogenetic analysis showed the presence of an abnormal chromosome 5 resulting from an unbalanced translocation in the proband. Array comparative genomic hybridization revealed trisomy of distal 6p which was confirmed by fluorescence in situ hybridization using subtelomeric probes for chromosomes 5 and 6. A comparison of the phenotypic features in similar cases of trisomy for different segments of 6p will facilitate an accurate karyotype-phenotype correlation and, subsequently, in the identification of the candidate genes through molecular characterization of the potential genes mapped to these loci.
authors.affiliation: aDepartment of Genetics, Dr ALM PG Institute of Basic Medical Sciences, University of Madras bDepartment of Medical Genetics, Institute of Obstetrics and Gynecology, Madras Medical College, Government Hospital for Women and Children, Chennai, Tamil Nadu cClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India.
authors.forename: Aswini
authors.initials: A
authors.lastname: Sivasankaran
authors.forename: Kanakavalli
authors.initials: K
authors.lastname: Murthy
authors.forename: Venkata P
authors.initials: VP
authors.lastname: Oruganti
authors.forename: Anuradha
authors.initials: A
authors.lastname: Deenadayalu
authors.forename: Chandra
authors.initials: C
authors.lastname: R Samuel
authors.forename: Lakshmi R
authors.initials: LR
authors.lastname: Kandukuri
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D019066:Facies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype; D014314:Trisomy