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

• Published in: American journal of medical genetics. Part A Vol. 127A; no. 2; pp. 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: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.06.2004
• Subjects: Chromosome Aberrations - classification; Cytogenetic Analysis; Female; Humans; In Situ Hybridization, Fluorescence - methods; Italy; marker chromosomes; Pregnancy; Prenatal Diagnosis; prenatal/postnatal diagnosis; spectral karyotyping; Spectral Karyotyping - methods; Italy

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...