The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings / 소아과
Korean Journal of Pediatrics
; : 1241-1244, 2008.
Article
em En
| WPRIM
| ID: wpr-18357
Biblioteca responsável:
WPRO
ABSTRACT
We report on 2 siblings with a partial trisomy of 7q (7q22-->qter) and concomitant partial monosomy of 8p (8p23.3-->pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Fenótipo
/
Trissomia
/
Seguimentos
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Deleção Cromossômica
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Telômero
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Irmãos
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Cariótipo Anormal
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Female
/
Humans
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Male
Idioma:
En
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2008
Tipo de documento:
Article