Fluorescent In Situ Hybridization: Use of Whole Chromosome Paint Probes to Identify Unbalanced Chromosome Translocations

Molecular characterization of a complex translocation in a newborn infant

“…In recent years, great strides have been made towards improving the quality of chromosome preparations and banding techniques LVerma and Babu, 19891; yet, detection of subtle chromosomal aberrations remains a major problem. The recent revolution in molecular methods, coupled with classical cytogenetic techniques have provided a new avenue toward understanding the chromosomal basis of human malformations [Lucas et al, 1989;Hulten et al, 1991;Carter et al, 1992;Kraker et al, 1992;Adinolfi, 19921. Chromosome in situ suppression (CISS) hybridization with recombinant DNA libraries using whole chromosome specific probes has become a powerful tool in deciphering chromosomes, especially in situations where aberrations are highly complex [Klinger et al, 1992;Speleman et al, 19921.…”

Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies

“…Chromosome "painting" probes were first described by Pinkel et al [19881. Using recombinant DNA libraries constructed for individual chromosomes and competitive hybridization, "paints" were obtained that uniquely hybridized to large portions of individual chromosomes. First used to demonstrate rearrangements involving chromosome 4 [Pinkel et al, 19881, "painting" probes have become available for most chromosomes and have been used to clarify other chromosomal rearrangements [Kraker et al, 1992;Sullivan et al, 1993;Spinner et al, 1993;Verma et al, 19931. In the present case, the use of FISH "painting" probes altered the karyotype interpretation by clarifying the multiple rearrangements. The original G-banded interpretation of a one-way insertion of chromosome 4 to chromosome 7 was shown by FISH to be a reciprocal two-way insertional translocation between the two chromosomes.…”

“…The use of fluorescence in situ hybridization (FISH) to "paint" whole chromosomes [Pinkel et al, 19881 can be a valuable tool in addition to routine cytogenetics. Whole chromosome "painting" probes have been used previously to verify translocations [Kraker et al, 1992;Sullivan et al, 19931 and duplications [Spinner et al, 19931. We report on a child with a de novo complex chromosome rearrangement involving 6 chromosomes and 10 breakpoints where the use of "painting" probes was very beneficial in clarifying the G-banded results. Additionally, an a-satellite centromeric probe and a very distal telomeric probe were essential for complete characterization of this complex karyotype.…”

Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)

“…This rearrangement was first described by WISNIEWSKI et al (1979), and since then numerous cases have been reported (GRAMMATICO et al 1994). During the last years, the use of fluorescent in situ hybridization (FISH) as a diagnostic aid in clinical cytogenetics has helped to identify chromosome abnormalities more accurately (KRAKER et al 1992). Recent reports have focused on the molecular composition of the inv dup (1 5) in relation to the Prader Willi/Angelman syndromes and the (1 5 ) (91 1 -13) paternal/maternal genetic balance (CHENG et al 1994;LEANA-COX et al 1994).…”