A Case of Split Hand Split Foot Malformation Associated with Pericentric Inversion of Chromosome 9 / 대한주산의학회잡지
Korean Journal of Perinatology
; : 334-339, 2006.
Article
em Ko
| WPRIM
| ID: wpr-83372
Biblioteca responsável:
WPRO
ABSTRACT
Split hand split foot malformation (SHFM) is a human developmental disorder characterized by a deep median cleft in the hands and feet, missing digits, and fusion of the remaining digits. The disease itself is considered to be very rare, affecting one out of 90,000 newborn babies. SHFM is genetically heterogeneous. To date, five SHFM loci have been mapped, to chromosome 2, 3, 7, 10 and X, respectively. We experienced a case of SHFM in a male neonate who had lobster-claw deformities of the hands and feet. The karyotype of his chromosome was 46,XY,inv (9) (p12q13). We report the case with the review of the associated literatures.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Anormalidades Congênitas
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Cromossomos Humanos Par 2
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Cromossomos Humanos Par 9
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Cariótipo
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Pé
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Mãos
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Desenvolvimento Humano
Limite:
Humans
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Male
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Newborn
Idioma:
Ko
Ano de publicação:
2006
Tipo de documento:
Article