mBAND: a high resolution multicolor banding technique for the detection of complex intrachromosomal aberrations

Abstract

Precise breakpoint definition of chromosomal rearrangements using conventional banding techniques often fails, especially when more than two breakpoints are involved. The classic banding procedure results in a pattern of alternating light and dark bands. Hence, in banded chromosomes a specific chromosomal band is rather identified by the surrounding banding pattern than by its own specific morphology. In chromosomal rearrangements the original pattern is altered and therefore the unequivocal determination of breakpoints is not obvious. The multicolor banding technique (mBAND, see Chudoba et al., 1999) is able to identify breakpoints unambiguously, even in highly complex chromosomal aberrations. The mBAND technique is presented and illustrated in a case of intrachromosomal rearrangement with seven breakpoints all having occurred on one chromosome 16, emphasizing the unique analyzing power of mBAND as compared to conventional banding techniques.

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

“…Patsalis et al [2004] studied 20 families with apparently balanced translocations and found additional, cryptic aberrations in 15%, which reclassified them as CCRs. This probably also holds true for intrachromosomal rearrangements, but to date, only 10 cases have been described [Romain et al, 1985;Tuck-Muller et al, 1996;Van Esch et al, 2002;Weise et al, 2003;Chudoba et al, 2004;Shim et al, 2004;de Vries et al, 2005;Gajecka et al, 2006;Piovani et al, 2006;Thienpont et al, 2006]. We here report on the detailed characterization of an extremely complex intrachromosomal rearrangement of chromosome 1, revealing 14 different breakpoints, 12 on the p-and two on the q-arm as well as a small deletion of 0.5 Mb on the p-arm.…”

Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization

“…mBAND was performed on chromosome 20 using a chromosome 20-specific probe kit (XCyte 20, Metasystem), which consists of a mixture of partly overlapping region-specific partial chromosome paints [Chudoba et al, 2004]. Images were captured using a Zeiss Axioplan 2 and analyzed with Metasystem ISIS imaging software.…”

Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies

“…Single chromosomes involved were 2 (Van Esch et al, 2002;Shim et al, 2004), 4 (Romain et al, 1985), 7 (de Vries et al, 2005), 10 (TuckMuller et al, 1996, 16 (Chudoba et al, 2004) and 21 (Weise growth was on the 75th centile for weight and OFC, and on the 75th-90th centile for length. Development was mildly delayed: at age 11 months, his development was 8 months according to the Bayley developmental scale (developmental index of 77), and at age 22 months, development was 16 months.…”