Apple-peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2) mat.

Apple peel intestinal atresia is an apple-peel-appearing bowel obstruction of unknown cause. We describe a Japanese girl with the apple-peel jejunal atresia associated with apparently balanced reciprocal translocation between chromosomes 2 and 3, t(2;3)(q31.3;p24.2)mat. The translocation breakpoints in the patient may become candidate regions for the putative gene causing apple-peel atresia. Alternatively, the association of the two abnormalities in the patient is coincidental because her phenotypically normal mother had the same chromosome translocation.