A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7
Journal of the Korean Society of Neonatology
;
: 187-192, 1998.
Artículo
en Coreano
| WPRIM
| ID: wpr-179997
ABSTRACT
Split hand and split foot(SHSF) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft resulting in a clawlike appearance of the hands and feets. SHSF is usually inherited in an autosomer dominant fashion. The incidence of SHSF is between 1/10,000 and 1/90,000. Thirteen cases of SHSF and chromosomal aberrations involving 7q21-22 have been described so far in the world. We experienced a case of typical tetramelic SHSF in neonate. Chromosome studies showed a pericentric inversion of chromosome 746,XY,inv(7) (p22q22). Inspection of the extremities and chromosome studies in the parents were normal.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Padres
/
Cromosomas Humanos Par 7
/
Incidencia
/
Aberraciones Cromosómicas
/
Extremidades
/
Pie
/
Mano
/
Desarrollo Humano
Tipo de estudio:
Estudio de incidencia
/
Estudio pronóstico
Límite:
Humanos
/
Recién Nacido
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Año:
1998
Tipo del documento:
Artículo
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