Trisomy 9p Syndrome 1례

• 영문명: The Trisomy 9p Syndrome
• 발행기관: 대한소아신경학회
• 저자명: 윤신원(Shin Won Yoon) 이준수(Joon Soo Lee) 차병호(Byung Ho cha) 고창준(Chang Jun Coe) 김길영(Kil Young Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제2권 제2호, 131~135쪽, 전체 5쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1995.05.20

영문 초록

Since Rethore and his collegues first described the partial trisomy 9p syndrome in 1970. approximately 100 patients with trisomy of the short arm of chromosome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and imcompatible with a long life. The characteristic features of the partial trisomy 9p syndrome is the clearly recognizable faces, which includes small deeply set eyes, a short bulbous nose, down turned corners of the mouth(fish shaped mouth), large flat ears turned out-ward, cleft lips and palate. The patients all show mental retardation and dysmorphism of hands with hypoplasia of phalanges and clinodactyly. We report a 3 years 4 months old boy, brought to neurologic department of Yonsei university hospital because of delayed development and absence convulsion with clinical features of deep set eyes, cup shaped ears, cleft lips and palate. clinodactyly, and single crease of 5th finger. The chromosome study comfirmed Trisomy 9p syndrome with mothers karyotype 46 xx, rcp (15:9) (q13:q12) and the patients karyotype 9p Trisomy 46 XY, -15 t(19:15)(13p:15q).

키워드

9p trisomy