title: Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
abstract: Extra structurally abnormal chromosomes (ESACs) and cryptic rearrangements are often associated with mental retardation and phenotypic abnormalities. In some cases their characterisation, using standard cytogenetic techniques and fluorescence in situ hybridization (FISH), is difficult and time consuming, where a fast and accurate identification is essential, especially when such chromosomal aberrations are found in prenatal diagnosis. A recent molecular technique, spectral karyotyping (SKY), based on the spectral signature of 24 chromosome-specific painting probes labelled with different combinations of five fluorochromes, allows the simultaneous visualisation of all human chromosomes in different colours. We used SKY analysis on 14 cases with rare ESACs or cryptic unbalanced rearrangements found at pre- or postnatal diagnosis. SKY analysis permitted the classification of chromosome rearrangements in all 14 cases analysed in combination with FISH analysis.
authors.affiliation: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, 66100 Chieti, Italy. paolo.guanciali@tin.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Guanciali-Franchi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.forename: Elisena
authors.initials: E
authors.lastname: Morizio
authors.forename: Donatella
authors.initials: D
authors.lastname: Fantasia
authors.forename: Alessia
authors.initials: A
authors.lastname: Colosimo
authors.forename: Maria M
authors.initials: MM
authors.lastname: Rinaldi
authors.forename: Luciano
authors.initials: L
authors.lastname: Cristini
authors.forename: Andrea
authors.initials: A
authors.lastname: Simonelli
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lonardo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Turci
authors.forename: Adriana
authors.initials: A
authors.lastname: Zatterale
authors.forename: Carmelo
authors.initials: C
authors.lastname: Laganà
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Sabatino
authors.forename: Giandomenico
authors.initials: G
authors.lastname: Palka
mesh_terms: D002869:Chromosome Aberrations / Q000145:classification*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007558:Italy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D032681:Spectral Karyotyping / Q000379:methods*