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.
Chromosome Aberrations ; Chromosomes, Human, Pair 2 ; Cryptorchidism ; Ear ; Family Characteristics ; Heart Septal Defects, Atrial ; Humans ; Infant, Newborn ; Karyotype ; Live Birth ; Male ; Motor Activity ; Neck