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Case Report

Hong-Ro Lee, Byung-Geun Lee, Soo-Chul Cho, Dae Yeol Lee, Jung Soo Kim, So Ja Jin

Clin Exp Pediatr. 1992;35(6):845-850. Published online June 15, 1992

This paper presents clinical manifestations and result of cytogenetic examination of a patient with trisomy 8 mosaicism syndrome. Characteristic features include hypertelolism, deep set eyes, anteverted nose, narrow pelves, hypospadia, camptodactyly and deep skin crease and furrows. Karyotyping and chromosomal analysis revealed 47 XY, + 8 mosaicism. A brief review of literature was presented.

Original Article

A case of Mosaic trisomy 8.

Hye Kyung Nam, Dong A Lee, Dong Hwan Lee, Sang Jhoo Lee

Clin Exp Pediatr. 1991;34(4):553-557. Published online April 30, 1991

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...

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