A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum.

Karaman, A; Binici, D N; Günes, N; Doru, I; Kabalar, M E; Kurt, A

Karaman, A; Binici, D N; Günes, N; Doru, I; Kabalar, M E; Kurt, A.

Afiliación

Karaman A; Department of Medical Genetics, Erzurum Nenehatun Obstetrics and Gynecology Hospital, Erzurum, Turkey. alikaramandr@hotmail.com

Genet Couns ; 21(2): 237-42, 2010.

Article en En | MEDLINE | ID: mdl-20681226

RESUMEN

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.

Asunto(s)

Cromosomas Humanos Par 11; Cromosomas Humanos Par 5; Situs Inversus/genética; Translocación Genética; Adulto; Dextrocardia; Humanos; Masculino

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Situs Inversus / Translocación Genética / Cromosomas Humanos Par 5 / Cromosomas Humanos Par 11 Límite: Adult / Humans / Male Idioma: En Revista: Genet Couns Asunto de la revista: ETICA / GENETICA MEDICA Año: 2010 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Suiza

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