Korean J Pediatr.  2012 Mar;55(3):107-110. 10.3345/kjp.2012.55.3.107.

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

Affiliations
  • 1Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea. jychang@khnmc.or.kr
  • 2Department of Laboratory Medicine, Kyung Hee University School of Medicine, Seoul, Korea.

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.

Keyword

Partial trisomy 3p; Corpus callosum dysgenesis; Cleft lip-palate; Unbalanced translocation

MeSH Terms

Agenesis of Corpus Callosum
Chromosomes, Human, Pair 3
Corpus Callosum
Cytogenetics
Ductus Arteriosus, Patent
Fathers
Female
Genitalia
Heart Defects, Congenital
Humans
Hydronephrosis
Hypertension, Pulmonary
Infant, Newborn
Intellectual Disability
Karyotype
Muscles
Trisomy
Chromosomes, Human, Pair 3
Trisomy
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