A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum.
Situs inversus viscerum is a condition in which the organs of the chest and abdomen are arranged in a perfect mirror image reversal of the normal positioning. The condition is in about 1 in 8,500 people. Although the mechanism that causes the heart loop to go left is not fully understood, it is thought that many factors are involved. Here we report a case with balanced reciprocal translocation and situs inversus viscerum. The case was a 35 year old single person. In the imaging studies, his heart was on the right (dextrocardia), his liver was on the left, and his spleen was on the right. Cytogenetic study showed that the man carried a balanced reciprocal translocation: 46,XY, t(5;11)(q32;q24.2). He had no dysmorphism. He had chronic gastritis and chronic esophageal acid reflux.
Karaman
A
A
Department of Medical Genetics, Erzurum Nenehatun Obstetrics and Gynecology Hospital, Erzurum, Turkey. alikaramandr@hotmail.com
Binici
D N
DN
Güneş
N
N
Doru
I
I
Kabalar
M E
ME
Kurt
A
A
D000328:Adult; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D003914:Dextrocardia; D006801:Humans; D008297:Male; D012857:Situs Inversus / Q000235:genetics*; D014178:Translocation, Genetic