A Balanced Translocation t (2:18) (p23:q23) in the Family
Journal of the Korean Society of Neonatology
;
: 199-202, 2000.
Artigo
em Coreano
| WPRIM
| ID: wpr-49076
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 2
/
Características da Família
/
Aberrações Cromossômicas
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Criptorquidismo
/
Orelha
/
Nascido Vivo
/
Cariótipo
/
Comunicação Interatrial
/
Atividade Motora
/
Pescoço
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2000
Tipo de documento:
Artigo
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