Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

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 consu...

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Published in:American journal of medical genetics 2004-06, Vol.127A (2), p.144-148
Main Authors: Guanciali-Franchi, Paolo, Calabrese, Giuseppe, Morizio, Elisena, Fantasia, Donatella, Colosimo, Alessia, Rinaldi, Maria M., Cristini, Luciano, Simonelli, Andrea, Lonardo, Fortunato, Turci, Alessandra, Zatterale, Adriana, Laganà, Carmelo, Stuppia, Liborio, Sabatino, Giuseppe, Palka, Giandomenico
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Aberrations - classification
Cytogenetic Analysis
Female
General aspects. Genetic counseling
Humans
In Situ Hybridization, Fluorescence - methods
Italy
marker chromosomes
Medical genetics
Medical sciences
Pregnancy
Prenatal Diagnosis
prenatal/postnatal diagnosis
spectral karyotyping
Spectral Karyotyping - methods
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Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20691