A Highly Complex Chromosomal Rearrangement between Five Chromosomes in a Healthy Female Diagnosed in Preparation for Intracytoplasmatic Sperm Injection

Abstract

S U M M A R YWe report a case of a de novo complex chromosomal rearrangement among five chromosomes found in a clinically healthy woman. The only indication for chromosome analysis was a planned intracytoplasmatic sperm injection. Physical examination, including internal and external genitals, and ovaries and hormone status were normal. Banding cytogenetics showed a rearrangement among chromosomes #3, #4, #7, #9, and #17. Twenty-fourcolor fluorescence in situ hybridization and multicolor banding were applied to characterize the translocations and breakpoints more precisely. This confirmed the involved chromosomes and revealed two breakpoints in chromosome #4. This six-breakpoint rearrangement [der(3)t(3;4), der(4)t(17;4;7), der(7)t(3;7), der(9)t(4;9), and der(17)t(9;17)] seemed to be balanced on a molecular cytogenetic level, although submicroscopic deletions or duplications close to the breakpoints cannot be excluded.

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

“…Since DSB-containing chromosome domains have only limited mobility, chromosome domains in each other's vicinity would be more often involved, and chromosome domains located far apart in the gamete interphase nucleus are less likely to be involved in the same CCR. So in general more breakpoints than chromosomes should be involved in CCRs, an expectation that seems to be confi rmed by this report and other recent high-resolution analysed CCRs (Houge et al, 2003;Weise et al, 2003;de Vries et al, 2005;Gribble et al, 2005;Kuechler et al, 2005;Rosenberg et al, 2005). A single 'catastrophic' event causing multiple chromatin breaks could thus explain the origin of CCRs and other non-recurrent chromosomal aberrations (NRCAs).…”

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

“…However, similar to the aforementioned and discussed discordance of GTG-banding and molecular cytogenetic results confronted within this study there are few comparable cases available in the literature. What can be deduced from the literature is, that complex chromosomal rearrangements as in cases 10 and 30 are relatively rare events in infertility cases and can involve up to 5 or more different chromosomes (16)(17). The most complex rearrangement observed in this study was case 30 involving chromosome X, Y and 11.…”

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements

“…These authors divided CCRs in 2 broad groups: one group ≤ 4 breaks and the other group >4 breaks. They observed that most familial CCRs belonged to the group with up to 4 breaks and have been transmitted by a balanced female carrier, whereas most of the de novo CCRs belonged to the group with more than 4 breaks and were of paternal origin [Kousseff et al, 1993;Batista et al, 1994;Joyce et al, 1999;Lee et al, 2002;Grasshoff et al, 2003;Kuechler et al, 2005]. The majority of the reported cases had 4 or less breaks [Pellestor et al, 2011].…”