J Korean Soc Neonatol.
2000 Nov;7(2):199-202.
A Balanced Translocation t (2:18) (p23:q23) in the Family
- Affiliations
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- 1Department of Pediatrics, Ilsin Christian Hospital, Busan, Korea.
- 2Department of Cytogenetics Laboratory, Ilsin Christian Hospital, Busan, Korea.
Abstract
- It has been estimated that chromosomal abnormality occurs in 0.4% of live births. A balanced translocation between chromosome 2 and 18, t (2;18) (p23;q23), is extremely rare. We report a neonate whose karyotype was 46, XY t (2;18) (p23;q23). He had multiple anomalies such as micrognathia, low-set ears, short neck, undescended testes, atrial septal defect, and decreased physical activity. Chromosomal analysis with G banding in high resolution showed a balanced translocation t (2;18) (p23;q23). The same chromosomal abnormality was found on the family for 3 generations.
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