8) Our report emphasizes the clinical presentation of a balanced
reciprocal translocation t(X;1).
Chromosome analysis by spectral karyotyping of spermatozoa from an oligoasthenozoospermic carrier of a 10; 21
reciprocal translocation.
There is a significant increased risk of giving birth to a child with Trisomy 21 when one parent is a Robertsonian translocation carrier or of
reciprocal translocations as they may produce balanced and unbalanced gametes during gametogenesis.
Also, in the present study, it was probable that the proper alignment of the homologous chromosomes was not possible due to the
reciprocal translocation, thereby resulting in unbalanced gametes.
A balanced
reciprocal translocation is an exchange of material between two nonhomologous chromosomes, without loss or gain of material and balanced translocation carriers are usually healthy and phenotypically normal.
Of the 9207 infertile males reviewed (8) 6 per cent were carriers of a
reciprocal translocation and 0.
Thus, an individual with a
reciprocal translocation contains a segment of one LG attached to another LG, the breakpoint being the point of attachment of the broken segments.
Her husband had a balanced
reciprocal translocation between the long arm of chromosome 10 and the short arm of chromosome 22, 46,XY,t(10; 22)(g24.
Either a paracentric inversion of chromosome 10, or a
reciprocal translocation between chromosomes 10 and 17, result in a RET/PTC fusion gene, placing the tyrosine kinase domain of RET (usually constitutively silent in follicular cells) under the transcriptional control of constitutively active genes.
SchulzSchaeffer and Friebe (1992) reported a
reciprocal translocation between chromosomes 1B and 2B in MT-2.
The
reciprocal translocation involving the bcl-2 locus on chromosome 18q21 and the immunoglobulin heavy chain locus (IgH) on chromosome 14q32 is shown schematically in Fig.
