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Soon Hyuk Lee (Lee SH)

1 Article

Case Report

A Case of Partial Trisomy 9 by Balanced Maternal Translocation

Mi Kyung Kim, Young Kyoo Shin, Baik Lin Eun, Sang Hee Park, Sun Hwa Park, Soon Hyuk Lee

Clin Exp Pediatr. 2000;43(5):700-703. Published online May 15, 2000

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital...

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