A Case of an Addition of Chromosome 9 Short Arm Associated with Multiple Congenital Anomalies
Journal of the Korean Society of Neonatology
;
: 200-206, 2008.
Artigo
em Coreano
| WPRIM
| ID: wpr-28939
ABSTRACT
Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Transtornos do Desenvolvimento Sexual
/
Cardiomiopatia Hipertrófica
/
Cromossomos Humanos Par 9
/
Heterocromatina
/
Cromossomos Humanos
/
Craniossinostoses
/
Permeabilidade do Canal Arterial
/
Audição
/
Hérnia Umbilical
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2008
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS