Journal of the Korean Pediatric Society 2002;45(7):917-922.
Published online July 15, 2002.
Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family
Saeah Min1, Seonwoong Lim1, Youngsook Kim2, Ohkyung Lee1
1Department of Pediatrics, Presbyterian Medical Center, Chonju, Korea
2Department of Clinical Pathology, Presbyterian Medical Center, Chonju, Korea
2대에 걸쳐 나타난 염색체 2번과 20번의 비균형적 전위 1례
민세아1, 임선웅1, 김영숙2, 이오경1
1전주예수병원 소아과
2전주예수병원 임상병리과
Ohkyung Lee, Email:
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 smaller deletion, is born alive; Those in which two types of abnormal offspring are viable. We report a neonate whose karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),der(20)t(2;20)(q21;p13). She was small for her gestational age and had multiple anomalies such as exophthalmos, corneal opacity, short neck, tongue tie, clinodactyly, atrial septal defect, patent ductus arteriosus and ventriculomegaly. Moreover, her mother's karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),del(16)(q22.1),der(20)t(2;20)(q21;p13) but her father had normal karyotype. The same derivative chrosomes were found between mother and her infant, except for del(16)(q22.1) in her mother and these same unbalanced translocations in a two-generation family are extremely rare.
Key Words: Unbalanced translocation, Chromosome 2, Chromosome 7

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