The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings / 소아과
Korean Journal of Pediatrics
;
: 1241-1244, 2008.
Artículo
en Inglés
| WPRIM
| ID: wpr-18357
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.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Trisomía
/
Estudios de Seguimiento
/
Deleción Cromosómica
/
Telómero
/
Hermanos
/
Cariotipo Anormal
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2008
Tipo del documento:
Artículo
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