A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7
Journal of the Korean Society of Neonatology
;
: 187-192, 1998.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Cromossomos Humanos Par 7
/
Incidência
/
Aberrações Cromossômicas
/
Extremidades
/
Pé
/
Mãos
/
Desenvolvimento Humano
Tipo de estudo:
Estudo de incidência
/
Estudo prognóstico
Limite:
Humanos
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
1998
Tipo de documento:
Artigo
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