De novo balanced translocation (6;18)(q21;q21.3 or q22) [corrected] in a patient with heterotaxia

American Journal of Medical Genetics
R KatoN Niikawa

Abstract

We report on a sporadic case of heterotaxia with a de novo chromosome structural abnormality. The patient had inversely located heart (dextrocardia), stomach, duodenum, and cecum. In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prominent maxilla and teeth, large carp mouth, short fifth fingers with limited flexion, generalized hypotonicity, and severe psychomotor retardation. High-resolution chromosome banding analysis demonstrated an apparently balanced translocation: 46,XX,t(6;18)(q21;q21.3). It is hypothesized that both heterotaxia and the chromosomal abnormality in the patient are causally related and a putative situs determining gene has been disrupted by the chromosome break, i.e., a position effect or a cryptic deletion at around the breakpoints. The translocation in our patient may be a good source for positional cloning of the gene.

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Citations

Aug 11, 2015·Expert Reviews in Molecular Medicine·Hao DengSheng Deng
Sep 20, 2001·American Journal of Medical Genetics·H PeetersK Devriendt
Mar 21, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·A E LinL B Holmes
Mar 1, 1997·The Japanese Journal of Human Genetics·R KatoN Niikawa
Apr 30, 1998·The Japanese Journal of Human Genetics·R KatoN Niikawa
Oct 8, 2004·European Journal of Human Genetics : EJHG·Barbara FritzHelga Rehder
Mar 1, 2006·Prenatal Diagnosis·Laurent J SalomonCatherine Garel
May 7, 2015·Biology of the Cell·Teresa Casar TenaMelanie Philipp

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