A Balanced Translocation t (2:18) (p23:q23) in the Family
Journal of the Korean Society of Neonatology
;
: 199-202, 2000.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes humains de la paire 2
/
Caractéristiques familiales
/
Aberrations des chromosomes
/
Cryptorchidie
/
Oreille
/
Naissance vivante
/
Caryotype
/
Communications interauriculaires
/
Activité motrice
/
Cou
Limites du sujet:
Humains
/
Mâle
/
Nouveau-né
langue:
Coréen
Texte intégral:
Journal of the Korean Society of Neonatology
Année:
2000
Type:
Article
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