日本新生児成育医学会雑誌　第32巻　第2号　168 ～ 171頁（2020年）

日本新生児成育医学会雑誌　32(2)：406-409；2020　

受付日：2019．11．12

受理日：2020．04．10

出生前後に18 トリソミーが疑われたEdwards-Klinefelter 症候群の1 例

A Case of Edwards-Klinefelter Syndrome Suspected as Trisomy 18 During the Perinatal Period

福岡市立こども病院　新生児科

Department of Neonatology, Fukuoka City Children’s Hospital

香月比加留・楠田　剛・島　貴史・野口雄史・岡田純一郎・金城唯宗・高畑　靖

Hikaru KATSUKI，Takeshi KUSUDA，Takashi SHIMA，Yushi NOGUTI， Junichiro OKADA，Tadamune KINJO，Yasushi TAKAHATA

Key Words：double aneuploidy，18trisomy，Edwards-Klinefelter syndrome

　染色体の数的異常（aneuploidy）は21 番染色体が過剰であるDown 症候群や18 トリソミー，13 トリソミー等が知られている。その数的異常が2 種類の染色体に及ぶdouble aneuploidy は稀であり，自然流産症例の中でも発生頻度は0.21 ～ 2.8% と報告されている 1）。今回我々は，胎児超音波検査で18 トリソミーを疑い，出生後も身体所見より同疾患と考えていたがG-banding は48,XXY,＋18 でありEdwards-Klinefelter 症候群と診断した1 例を経験した。
　症例は日齢0 の男児。在胎37 週1 日，胎児機能不全と多発形態異常を指摘され当院救急母体搬送となり，同日緊急帝王切開で出生した。出生体重1,140g，Apgar スコア1/5（1 分/5 分），生直後より啼泣を認めず，また蘇生にも反応せず生後50 分で蘇生を中止した。口唇口蓋裂，小顎症，耳介低位，眼裂狭小，頭蓋瘻，合指症，右下肢内反，揺り椅子状の足底，停留精巣を認めた。臨床的には18 トリソミーが疑われたが後に判明したG-banding の結果から Edwards-Klinefelter 症候群と診断した。

Chromosomal aneuploidy is well known as Down syndrome, in which chromosome 21 is trisomy, and other autosomal trisomies involve chromosomes 18, 13, and so on. Having two kinds of simultaneous aneuploidy is rare. Several studies have reported the frequency as 0.2-2.8％. In this case, we experienced trisomy 18 suspected based on fetal ultrasound examination and physical examination after birth, but the diagnosis was Edwards-Klinefelter syndrome by postnatal chromosome examination. This case was a male infant with 0 days of age. He had no described obvious abnormality in fetal stage. In the 37th week of gestation, he was transported to our hospital because of fetal dysfunction, due to embryonic multiple morphological abnormality. He was born by emergency caesarean section on the same day. His weight was 1,140g, Apgar Score 1/5（ 1 min / 5 min）. He did not cry or respond to our resuscitation. We ceased the resuscitation at 50 minutes after birth. He had cleft lip and cleft palate, micrognathia, low-set ears, blepharophimosis, craniofacial fistula, symphalangism, right clubfoot, rocker bottom, and cryptorchidism. We clinically suspected trisomy 18, but finally diagnosed Edwards- Klinefelter syndrome based on G-banding.