title: First report of a small supernumerary der(8;14) marker chromosome.
abstract: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread. Most of them are unexpectedly detected in routine karyotype analyses, and it is usually not easy to correlate them with a specific clinical picture. A small group of sSMCs is derived from more than one chromosome, called complex sSMCs. Here, we report on a patient with a de novo complex sSMC, derived from chromosomes 8 and 14. Banding karyotype analysis, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP)-based array, and fluorescence in situ hybridization (FISH) were performed to investigate its origin. Array and FISH analyses revealed a der(14)t(8;14)(p23.2;q22.1)dn. The propositus presents some clinical features commonly found in patients with partial duplication or triplication of 8p and 14q. This is the first report describing a patient with a congenital der(14)t(8;14)(p23.2;q22.1)dn sSMC.
authors.affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: R S
authors.initials: RS
authors.lastname: Guilherme
authors.forename: A R N
authors.initials: AR
authors.lastname: Dutra
authors.forename: A B A
authors.initials: AB
authors.lastname: Perez
authors.forename: S S
authors.initials: SS
authors.lastname: Takeno
authors.forename: M M
authors.initials: MM
authors.lastname: Oliveira
authors.forename: L D
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: E
authors.initials: E
authors.lastname: Klein
authors.forename: A B
authors.initials: AB
authors.lastname: Hamid
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: M I
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins