1 筑波大学小児科Department of Child Health, University of Tsukuba ◇ Tsukuba, Ibaraki, Japan
2 茨城県立こども病院小児循環器科Department of Pediatric Cardiology, Ibaraki Children’s Hospital ◇ Mito, Ibaraki, Japan
3 筑波大学心臓血管外科Department of Cardiovascular Surgery, University of Tsukuba ◇ Tsukuba, Ibaraki, Japan
22q11.2重複症候群は1999年に初めて報告された疾患で，22q11.2欠失症候群に類似した表現型を呈する．第5大動脈弓遺残の遺伝的背景検索として行った染色体FISH検査で22q11.2重複症候群と診断された乳児例を報告する．症例は男児．胎児エコー検査で発育遅延と心室中隔欠損症が指摘されていた．在胎36週0日，体重1,770 gで出生した．特徴的顔貌を呈し，心エコーで膜様部心室中隔欠損，心房中隔欠損，第5大動脈弓遺残，右鎖骨下動脈起始異常，左上大静脈遺残と診断された．日齢13に動脈管結紮術が行われた．マイクロアレイCGH検査では典型的な3Mbの領域が重複していた．第5大動脈弓遺残は22q11.2欠失症候群では報告があるが，重複症候群に合併した症例は本例が初めてである．22q11.2領域の遺伝子の量的異常が第5大動脈弓遺残発症にも関与している可能性が示唆された．
First described in 1999, 22q11.2 duplication syndrome has a phenotype similar to that of 22q11.2 deletion syndrome. We present a case of 22q11.2 duplication diagnosed by fluorescence in situ hybridization (FISH) analysis performed to screen the genetic background of a rare congenital vascular anomaly, persistent 5th aortic arch. This male infant was born at 36 weeks of gestation with a birth weight of 1,770 g. Dysmorphic facial features were noted, and echocardiography revealed ventricular septal defect, atrial septal defect, persistent 5th aortic arch, aberrant right subclavian artery, and persistent left superior vena cava. Ligation of the ductus arteriosus was performed at age 13 days. Comparative genomic hybridization (CGH) microarray analysis revealed that the duplication was located at a typical 3-Mb region. Although persistent 5th aortic arch has been reported in patients with 22q11.2 deletion, this is the first case of 22q11.2 duplication complicated by 5th aortic arch. This case demonstrated that a gene dosage effect involving 22q11.2 could contribute to the development of persistent 5th aortic arch.
Key words: array comparative genomic hybridization; fluorescent in situ hybridization; persistent 5th aortic arch; 22q11.2 duplication syndrome
© 2019 特定非営利活動法人日本小児循環器学会© 2019 Japanese Society of Pediatric Cardiology and Cardiac Surgery
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