Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
Journal of Genetic Medicine
; : 123-127, 2015.
Article
de En
| WPRIM
| ID: wpr-195760
Bibliothèque 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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Diagnostic prénatal
/
Malformations
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Hétérogénéité génétique
/
Membres
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Hybridation génomique comparative
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Fémur
/
Fibula
/
Pied
/
Main
Type d'étude:
Diagnostic_studies
langue:
En
Texte intégral:
Journal of Genetic Medicine
Année:
2015
Type:
Article