- Case Report
- A case of Trisomy 8 mosaicism
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Hong-Ro Lee, Byung-Geun Lee, Soo-Chul Cho, Dae Yeol Lee, Jung Soo Kim, So Ja Jin
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Clin Exp Pediatr. 1992;35(6):845-850. Published online June 15, 1992
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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. |
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