title: Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.
abstract: We report on a girl who presented with distinctive abducted hip and hyperextended knee. Cytogenetic analysis detected an extra derivative chromosome resulting from a balanced translocation in the mother and 3:1 segregation. Using array comparative genomic hybridization (CGH) in combination with conventional high resolution GTG banding, we designate the karyotype as 47, XX, +der(9)t(1;9)(q41;q21.32)mat, indicating tertiary trisomy of chromosome segments 1q41-qter and 9pter-9q21.32. A review and genotype-phenotype correlation suggested that the patient represented most of the manifestations of duplication of chromosome arms 1q and 9p. To our knowledge, a similar case has so far not been reported.
authors: Department of Medical Genetics, Faculty of Medicine, İstanbul Medeniyet University, İstanbul, Turkey.
authors: Ibrahim
authors: I
authors: Akalin
authors: Senol
authors: S
authors: Bozdag
authors: Malte
authors: M
authors: Spielmann
authors: Sarenur Yilmaz
authors: SY
authors: Basaran
authors: Indrajit
authors: I
authors: Nanda
authors: Eva
authors: E
authors: Klopocki
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002899:Chromosomes, Human, Pair 9; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D010641:Phenotype; D011859:Radiography; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*
keywords: array CGH; duplication 1q41; duplication 9p; partial trisomy; t(1;9)