Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1208-1210, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-922025
ABSTRACT
OBJECTIVE@#To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.@*RESULTS@#SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.@*CONCLUSION@#Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Deformidades Congénitas del Pie
/
Deformidades Congénitas de la Mano
/
China
/
Variaciones en el Número de Copia de ADN
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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