title: Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.
abstract: We describe a female patient with a small supernumerary marker chromosome (sSMC) present in mosaic and characterized in detail by fluorescence in situ hybridization (FISH) using all 24 human whole chromosome painting probes, multicolor banding (MCB) and subcentromere specific multicolor FISH (subcenM-FISH). The sSMC was demonstrated to be derived from chromosome 5 and the karyotype of our patient was as follows: 47,XX,+mar.ish r(5)(::p13.2 approximately p13.3-->q11.2::) [60%]/46,XX [40%]. Partial trisomy for the proximal 5p and q chromosomal regions is a rare event. A critical region exists at 5p13 for the phenotype associated with duplication 5p. As far as we know, eight similar cases have been published up to now. We describe a new case which, to our knowledge, is the first characterized in such detail. The role of uniparental disomy (UPD) in cases of SMC is also discussed.
authors.affiliation: Genetics Department, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece. inchildh@otenet.gr
authors.forename: C
authors.initials: C
authors.lastname: Sarri
authors.forename: Y
authors.initials: Y
authors.lastname: Gyftodimou
authors.forename: M
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: E
authors.initials: E
authors.lastname: Pandelia
authors.forename: S
authors.initials: S
authors.lastname: Kalogirou
authors.forename: H
authors.initials: H
authors.lastname: Kokotas
authors.forename: K
authors.initials: K
authors.lastname: Mrasek
authors.forename: A
authors.initials: A
authors.lastname: Weise
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping
chemical_list: D005819:Genetic Markers