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A case of partial trisomy 3p syndrome with rare clinical manifestations

Authors
Journal
Korean Journal of Pediatrics
1738-1061
Publisher
Korean Pediatric Society (KAMJE)
Publication Date
Volume
55
Issue
3
Identifiers
DOI: 10.3345/kjp.2012.55.3.107
Source
Legacy
Keywords
  • Case Report
Disciplines
  • Medicine

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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