Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of partial trisomy 3p syndrome with rare clinical manifestations

  • Han, Dong-Hoon (Department of Pediatrics, Kyung Hee University School of Medicine) ;
  • Chang, Ji-Young (Department of Pediatrics, Kyung Hee University School of Medicine) ;
  • Lee, Woo-In (Department of Laboratory Medicine, Kyung Hee University School of Medicine) ;
  • Bae, Chong-Woo (Department of Pediatrics, Kyung Hee University School of Medicine)
  • Received : 2011.06.17
  • Accepted : 2011.08.29
  • Published : 2012.03.15
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Abstract

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

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References

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