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.
Imaizumi
K
K
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kimura
J
J
Masuno
M
M
Kuroki
Y
Y
Nishi
T
T
D002871:Chromosome Banding; D020223:Chromosome Painting; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007223:Infant; D007409:Intestinal Atresia / Q000235:genetics*; D007583:Jejunum / Q000002:abnormalities*; D007621:Karyotyping; D014178:Translocation, Genetic