A Balanced Translocation t (2:18) (p23:q23) in the Family.
- Author:
Ohsuk GWON
1
;
Okseung JUNG
;
Sonsang SEO
;
Sukja PARK
Author Information
1. Department of Pediatrics, Ilsin Christian Hospital, Busan, Korea.
- Publication Type:Case Report
- Keywords:
Balanced translocation;
Chromosomal abnormality
- MeSH:
Chromosome Aberrations;
Chromosomes, Human, Pair 2;
Cryptorchidism;
Ear;
Family Characteristics;
Heart Septal Defects, Atrial;
Humans;
Infant, Newborn;
Karyotype;
Live Birth;
Male;
Motor Activity;
Neck
- From:Journal of the Korean Society of Neonatology
2000;7(2):199-202
- CountryRepublic of Korea
- Language:Korean
-
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.
