methods: We performed a large PubMed search in order to summarize the current knowledge in this field and address important aspects of CCR formation and meiotic behavior, highlighting the complexity of these rearrangements at the chromosomal and genomic level. results: The review of published data indicates that the complexity of CCRs is becoming increasingly known, thanks to the application of more and more efficient molecular techniques. These approaches have allowed the precise sequence analysis of breakpoints and the identi- fication of insertions, deletions, inversions and recombination events. New models have been proposed for the formation of CCRs, based on replication-based mechanisms and specific sequence elements. Their meiotic behavior has been discussed in the light of these new molecular data.

Complex chromosomal rearrangements: origin and meiotic behavior

We report an unusual case of a balanced reciprocal translocation with a recombinant chromosome which has arisen from a familial balanced complex translocation. Fluorescence in situ hybridization studies were essential for the identification of the breakpoints. A review of 60 cases of balanced complex translocations (BCT) has revealed three cases similar to ours. Carriers of BCT have a high risk of having spontaneous abortions or a child with an unbalanced karyotype. Certain types of balanced rearrangements involving an insertion can give rise to a simpler balanced translocation as a result of crossover. Our observations support the assumption that the chance that a de novo balanced complex translocation is associated with an abnormal phenotype increases with the number of breakpoints.

Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

We describe a complex and unique, de novo apparently balanced translocation involving chromosomes 4, 18, and 21 with 4 breakpoints, in a patient who was referred for an evaluation of possible fragile-X syndrome. Fluorescence in situ hybridization (FISH) confirmed the complexity of the rearrangement and showed the derivative 21 to be composed of 3 distinct segments derived from chromosomes 21, 18, and 4. The derivative chromosome 18 had undergone a double translocation, the first such event to be described in constitutional complex chromosomal rearrangements (CCRs) involving chromosome 18. A review of these CCRs suggests the existence of a breakpoint "hot spot" on 18q21.

De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review.

We report on a 23-yr-old healthy female with repeated miscarriages and a de novo complex chromosomal rearrangement (CCR) involving chromosomes 1, 2, 5 and 11 with 5 breakpoints. A review of cases reported in the last five yr is provided.

Complex chromosomal rearrangement in a woman with multiple miscarriages.

Complex chromosome rearrangements (CCR) are rare structural rearrangements. Currently six cases of prenatally diagnosed balanced de novo CCR have been described. We present two new cases of prenatally ascertained balanced de novo CCR. In the first case, an amniocentesis revealed a balanced de novo three-way CCR involving chromosomes 5, 6, and 11 with a pericentric inversion of chromosome 5 [four breaks]. In the second case, a balanced de novo rearrangement was identified by amniocentesis which involved a reciprocal translocation between chromosomes 3 and 8 and a CCR involving chromosomes 6, 7, and 18 [six breaks]. The use of whole chromosome painting helped elucidate the nature of these rearrangements. A review of the postnatally ascertained cases suggests that most patients have congenital anomalies, minor anomalies, and/or developmental delay/mental retardation. In addition, there appears to be a relationship between the number of chromosome breaks and the extent of phenotypic effects. The paucity of information regarding prenatally diagnosed CCR and the bias of ascertainment of postnatal CCR cases poses a problem in counseling families.

Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: two new cases and review of the literature.

Cytogenetic studies have been performed in over 4,000 couples with antecedent spontaneous foetal loss (1068 couples reported by Fryns et al. 1984; 3,500 couples in 55 studies summarised by Schwartz and Palmer 1983) and no complex chromosome re-arrangements (CCR) involving three or more chromosomes were reported. Our case was a phenotypically normal twice married female aged 28 years, who had sustained five first tr imester spontaneous abortions, one second trimester abortion, and one stillbirth. There were no living children. Rout ine endocrine investigations were normal; gynaecological tests showed an ovarian cyst. Cytogenetic analysis revealed a CCR which was apparently balanced involving chromosomes 3, 5, and 11--46,XX,t(3;5;11)(3q13;5q35; 11q14) shown in Fig. 1. Both parents had a normal karyotype and the family history was unremarkable . Kleczkowska et al. (1982) reviewed the literature on 39 CCR and the most frequent cause for referral was a child with multiple congenital malformations. We could find only one case report of a CCR detected through a proband presenting with a history of repeated abort ion (Meer et al. 1981) and in this case the CCR was familial. Ours appears to be the second such case and is de novo. We would be interested to hear of any similar cases in abortion.

Complex translocation in habitual abortion.

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Complex translocation in habitual abortion.