Premium
Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family
Author(s) -
Goel H.,
Phadke S. R.
Publication year - 2011
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/j.1439-0272.2009.01017.x
Subject(s) - chromosomal translocation , azoospermia , karyotype , infertility , sterility , male infertility , gynecology , oligospermia , medicine , andrology , biology , genetics , pregnancy , chromosome , gene
Summary In this case report we present a family with infertile, azoospermic but otherwise apparently healthy males with history of recurrent spontaneous abortions (RSA) in females. Karyotype of the infertile man revealed a reciprocal balanced translocation t(8; 13) with breakpoints at 8q22 and 13p11.2. The reported reciprocal balanced translocation is associated with azoospermia. The same translocation is probably the cause of RSA in females of the family.