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

✍ Scribed by Imaizumi, Kiyoshi; Kimura, Junko; Masuno, Mitsuo; Kuroki, Yoshikazu; Nishi, Toshiji

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 6 KB
Volume: 87
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991222)87:5<434::aid-ajmg12>3.0.co;2-v

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✦ Synopsis

Apple peel intestinal atresia is an applepeel-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. Am.

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