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Journal of the Korean Society of Neonatology 2000;7(2):199-202.
Published online January 1, 2001.
A Balanced Translocation t (2:18) (p23:q23) in the Family.
Ohsuk Gwon, Okseung Jung, Sonsang Seo, Sukja Park
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.
Key Words: Balanced translocation, Chromosomal abnormality
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