Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.
Indian J Pediatr
;
2008 Sep; 75(9): 956-60
Artículo
en Inglés
| IMSEAR
| ID: sea-79091
ABSTRACT
Partial trisomy 7p with partial monosomy 9p is a rare disorder with only 3 cases reported. Both these abnormalities i.e., partial trisomy 7p and partial monosomy 9p result in distinct clinical phenotypes. However, patients with combined 7p trisomy/9p monosomy present with a phenotype consistent with trisomy 7p. We present a fourth case of trisomy 7p/monosomy 9p with long term follow-up and document the medical complications associated with this disorder. Long term follow-up of patients with chromosome abnormalities provides a unique opportunity to document the medical history and complications associated with such abnormalities.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Fenotipo
/
Translocación Genética
/
Trisomía
/
Cromosomas Humanos Par 7
/
Cromosomas Humanos Par 9
/
Humanos
/
Masculino
/
Discapacidades del Desarrollo
/
Preescolar
/
Estudios de Seguimiento
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2008
Tipo del documento:
Artículo
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