All issues > Volume 34(4); 1991

Original Article

J Korean Pediatr Soc. 1991;34(4):553-557. Published online April 30, 1991.

A case of Mosaic trisomy 8.

Hye Kyung Nam¹, Dong A Lee¹, Dong Hwan Lee¹, Sang Jhoo Lee¹

¹Department of Pediatrics, School of Medicine, Soon Chun Hyang University, Seoul Korea

Received: July 10, 1990;  Accepted: November 6, 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..

Keywords :Trisomy 8 mosaicism