The father's cytogenetic study was normal (46, XY ), but the mother was found to have a balanced translocation
(46, XX, t (11;22) (q23;q11) (Fig.
To the Editor: The t(9;22)(q34;q11) (Philadelphia chromosome [Ph]) balanced translocation
results in fusion of the BCR gene at 22q11 with cytoplasmic tyrosine kinase gene ABL1 and plays an essential role in leukemic transformation.
ICP identified the balanced translocation
between chromosomes 8 and 22, and this was later confirmed by standard interphase FISH with probes for MYC and IGL (Table 3).
Translocations can be balanced or unbalanced and it is admitted that a balanced translocation
does not show any phenotypic anomalies as in the case of our patient [9,10].
Mother had balanced translocation
involving chromosomes 11 and 22 (Figure 1(d)).
Unbalanced segregation of balanced chromosomal rearrangements causes neurodevelopmental anomalies in the fetus, while carriage of balanced translocation
does not lead to any phenotypic effect on the prospective parents.
(3,4) Nonetheless, the coexistence of balanced translocation
, gonadal dysgenesis, and tall stature in association with t(X;1) translocation has been rarely described in the literature.
Acute promyelocytic leukemia (APL) is a distinct form of acute myeloid leukemia (AML) characterized by the balanced translocation
t(15;17)(q24;q21) that results in production of the PML-RARA oncogene.
This meant that the male partner was a carrier of a balanced translocation
involving chromosomes 5, 8 and 12.
Doctors told Lynn she was suffering from a balanced translocation
, a genetic condition which meant she could struggle to carry a baby full term.
EMC shows a balanced translocation
Brian Mariani, scientific director of the Genetics and IVF Institute where the PicoPLEX DNA-seq Kits were tested, the sequencing data from the PicoPLEX DNA-seq libraries of embryo DNA detected a male balanced translocation
that had not been identified by prior microarray and FISH analyses.