A Case of 9p-Syndrome due to a Balanced Maternal Translocation t(9;16) (p22;p13.2) / 대한임상병리학회지
Korean Journal of Clinical Pathology
; : 676-680, 1997.
Article
em Ko
| WPRIM
| ID: wpr-13980
Biblioteca responsável:
WPRO
ABSTRACT
The deletion 9p syndrome is a well characterized syndrome with about one hundred cases having been reported. Most patients have dysmorphic facial features, cardiac anomalies, and mental retardation. We report on a female infant with micrognathia, corneal opacity, cleft palace, cardiac anomaly, left polycystic kidney, and deletion 9p. Chromosome analysis and fluorescence in situ hybridization (FISH) showed her to have a derived chromosome 9 inherited from a maternal t(9;16) (p22;p13.2) by adjacent I segregation There are few reports of this particular chromosome rearrangement. We review deletion Sp syndrome.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Cromossomos Humanos Par 9
/
Hibridização In Situ
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Opacidade da Córnea
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Fluorescência
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Doenças Renais Policísticas
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Deficiência Intelectual
Limite:
Female
/
Humans
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Infant
Idioma:
Ko
Revista:
Korean Journal of Clinical Pathology
Ano de publicação:
1997
Tipo de documento:
Article