Initially, Sovani et al (23) identified clonal chromosomal abnormalities including loss of a chromosome 6; extra material of unknown origin attached to the long arm of chromosome 12; and an unbalanced translocation
involving the short arm of a chromosome 6 and the long arm of a chromosome 14 in a case of OFMT.
The DS cases with unbalanced translocation
usually are de novo and nearly 25% result from familial transmission.
The male patient was diagnosed with a balanced three-way reciprocal translocation after his female partner suffered repeated miscarriages and an elective abortion due to the fact that the embryo was affected with an unbalanced translocation
Should a structural rearrangement occur in repetitive sequences, this step would remove the actual event; however, we chose to implement this step here to emphasize that the putative fetal de novo unbalanced translocation
for plasma C occurred in a background of unique sequences.
One with an unbalanced translocation
(11 and 13) of maternal origin, a strictly genetic anomaly.
Three children with an unbalanced translocation
resulting in partial Trisomy 8 and partial Monosomy 12 survived in this family, and all had dysmorphic features and severe intellectual handicap.
A woman pregnant with a male fetus affected by an unbalanced translocation
(46,XY, der(14;21)(q10;q10), + 21) was recruited with informed consent.
Chromosomal abnormalities, including trisomy 21 and an unbalanced translocation
, were detected by aCGH in two infants.
A karyotypic abnormality in SPENP has been described in a 43-year-old black woman; the abnormality consisted of an unbalanced translocation
between chromosomes 13 and 17: der(17)t(13:17)(q14:p11).
5) Abnormal segregation during meiosis can result in sperm with unbalanced translocations
Recent data from a study from the National Institute of Child Health and Human Development (NICHD) reveal that the prenatal detection rates for aneuploidy and unbalanced translocations
are comparable between microarray analysis and karyotyping.