| 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 |
|
PDF Links
Download Citation
