A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
Journal of the Korean Pediatric Society
;
: 291-294, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-44747
ABSTRACT
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Nervo Óptico
/
Palato
/
Fenótipo
/
Braço
/
Cromossomos em Anel
/
Escoliose
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Fenda Labial
/
Orelha
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2003
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS