Clinical and Experimental Pediatrics

Case Report

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

Dong Hoon Han, Ji Young Chang, Woo In Lee, Chong Woo Bae

Clin Exp Pediatr. 2012;55(3):107-110. Published online March 16, 2012

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...

DOI: https://doi.org/10.3345/kjp.2012.55.3.107

Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family

Saeah Min, Seonwoong Lim, Youngsook Kim, Ohkyung Lee

Clin Exp Pediatr. 2002;45(7):917-922. Published online July 15, 2002

An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation carrier fall into the following classes : Those in which none of the possible abnormal offsprings is viable; Those in which one type of offspring, usually the one with the...

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Partial Monosomy 21 Associated with Unbalanced t(10p;21q)

Bon Su Koo, Sang Uk Park, Jae Hong Park, Su Yung Kim

Clin Exp Pediatr. 1995;38(8):1146-1150. Published online August 15, 1995

We experienced a case of partial monosomy 21 ina 9 year and 8 month old boy. He showed mental and growth retardation, others normal appearance except for low set malformed ears. Chromosomal analysis on Giemsa banding with high resolution showed unbalnaced translocation between 10 and 21 chromosomes and the deletion of short arm and centromere of chromosome 21. His karyotype...

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