Warning: fopen(/home/virtual/pediatrics/journal/upload/ip_log/ip_log_2024-03.txt) [function.fopen]: failed to open stream: Permission denied in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 82

Warning: fwrite(): supplied argument is not a valid stream resource in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 83
A case of Mosaic trisomy 8.

Journal of the Korean Pediatric Society 1991;34(4):553-557.
Published online April 30, 1991.
A case of Mosaic trisomy 8.
Hye Kyung Nam, Dong A Lee, Dong Hwan Lee, Sang Jhoo Lee
Department of Pediatrics, School of Medicine, Soon Chun Hyang University, Seoul Korea
모자익 8 삼체성 1례
남혜경, 이동아, 이동환, 이상주
순천향대학교 의과대학 소아과학교실
Received: 10 July 1990   • Accepted: 6 November 1990
Abstract
Cardinal clinical features of trisomy 8 are as follow: Absent patellae; mental retardation; facies notable or its anteverted nose, long philtrum, micrognathia and malformed ears; flexion deformities of the fingers or toes, deep plantar V-shaped cleft between the first and third interdigital web of foot, “pH capitonne”. More than 35 patients have been identified as having trisomy 8. The authors experienced a patient of trisomy 8 who had anteverted nose, low set ears with micrognathia, deep-set eyes, hypertelorism, widely spaced nipples andn deep plantar V-shaped cleft, narrow pelvis. Echocardiography revealed moderate ventricular septal defect. Chromosome study showed 46, XY/47, XY +8. A brief review of the literautres was also presented..
Key Words: Trisomy 8 mosaicism


METRICS Graph View
  • 950 View
  • 15 Download