Nevertheless, there have been some case reports which imply different inheritance mechanisms such as: 2:2 segregation in the first meiotic division of the
balanced translocation, followed by non-disjunction during meiosis II (3); and de novo t(11;22) in the paternal germline, with probable unbalanced adjacent 1 segregation and maternal non-disjunction of chromosome 22 during meiosis I (4).
As a result, in a case where a patient has a clonal abnormality, for example, a
balanced translocation between chromosomes 12 and 21, when chromosome 12 is analyzed it will show a displacement of the chromosome segment distal to the breakpoint of the translocation (Figure 5, C).
reported a monosomy X with streak gonad syndrome associated with familial
balanced translocation (13;14) [14].
Mother had a
balanced translocation involving chromosomes 4 and 21 (Figure 2(c)).
It has been reported that
balanced translocation carriers have an increased risk of abnormal conceptions and miscarriages, [5] caused by either malsegregation of the derivative chromos omes or the generation of a recombinant chromosome.
Thereby, a previously unrecognized reciprocal and apparently
balanced translocation between the three chromosomes 2, 9, and 18 was identified.
Also, if chromosomal testing demonstrates a certain karyotype, such as a translocation, then microarray testing is the best approach for determining if it is a
balanced translocation. If a marker chromosome is detected, microarray will identify it.
Although many factors were found associated with it, it still remains unexplained in nearly 50% of RM patients.3 Chromosomal abnormality accounts for only 4% of RM cases, with the most common abnormality being
balanced translocation.4 In this report, we describe a balanced reciprocal translocation, t(10;13)(q24; q14), in a woman with RM.
But they also revealed she had a chromosome disorder called
balanced translocation, which affects about one in 6,000.
In case 2, the newborn presents an 18p11.2 deletion, considered of maternal origin, because of a finding in the mother of a
balanced translocation 6p/18p, a finding infrequently reported (1).
[16] identified the breakpoints of the EEC1
balanced translocation to 7q11.21 and 9p12.
In a second case, respondents were asked whether they would tell a couple which partner carried a
balanced translocation of chromosomal material that had caused Down syndrome in their child.