日本未熟児新生児学会雑誌　第25巻第2号　64～68頁（2013年）

日本未熟児新生児学会雑誌　25(2)：190-194；2013　

受付日：平成24．07．30

受理日：平成25．01．22

2 番染色体長腕部分欠失の1 例

A case of Interstitial Deletion of the Long Arm of Chromosome 2

近江八幡市立総合医療センター　小児科

Department of Pediatrics, Omihachiman Community Medical Center

増田俊樹・吉田　忍・深澤陽平・塚村篤史・西澤嘉四郎

Toshiki MASUDA，Shinobu YOSHIDA，Yohei FUKASAWA，Atsushi TSUKAMURA，Kashiro NISHIZAWA

Key Words：chromosome 2，2q32.1-q34 deletion，multiple cholelithiasis，epilepsy

　2 番染色体長腕32.1-34 部分欠失の男児例を経験した。患児は特異顔貌，屈指症，判別不明性器などの身体所見を有し，画像所見上，全脳梁欠損，片側に強い脳室拡大，心房中隔欠損症を認めた。染色体検査を行い，高精度G 分染法によって，2q32.1-q34 欠失と診断した。患児はその後の経過で，体重増加不良，発達遅延，多発胆石症，肺高血圧症，無呼吸発作などを認めた。
　2 番染色体長腕部分欠失は本邦において数例の報告を認める。患児の臨床所見はおおむね既存の症例と一致していたが，多発胆石症，特異な脳波所見を伴う無呼吸発作など本児に特有の所見も認められた。病態の把握にはさらなる症例の集積が必要と考えられた。

　We report the case of a boy with a partial deletion in the long arm of chromosome 2 from 32.1 to 34. The physical findings include characteristic facial appearance, camptodactylia, and ambiguous genitalia. Imaging analyses revealed complete absence of the corpus callosum, severe enlargement of the lateral ventricle, and a defect in the atrial septum. On the basis of these clinical findings, a chromosomal abnormality was suspected, and a 2q32.1 to 2q34 deletion was confirmed using a high-resolution chromosome G-banding technique. The patient showed poor weight gain and growth retardation, with multiple cholelithiasis, pulmonary hypertension, and apnea attacks during the course of the disease.
　In Japan, a few cases of partial deletions in the long arm of chromosome 2 have been reported. Further, deletion at the same site as that described in this study has also been reported. However, the clinical symptoms are different for each patient. Although this patient’s clinical symptoms were almost consistent with those described in the previously reported cases, some findings, such as multiple cholelithiasis, were unique to this case. Therefore, several cases need to be studied to completely understand the disease condition.