Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
Journal of Genetic Medicine
; : 123-127, 2015.
Article
en En
| WPRIM
| ID: wpr-195760
Biblioteca responsable:
WPRO
ABSTRACT
Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.
Palabras clave
Texto completo:
1
Banco de datos:
WPRIM
Asunto principal:
Diagnóstico Prenatal
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Anomalías Congénitas
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Heterogeneidad Genética
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Extremidades
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Hibridación Genómica Comparativa
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Fémur
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Peroné
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Pie
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Mano
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Journal of Genetic Medicine
Año:
2015
Tipo del documento:
Article