Analysis of FANCA gene mutation in a child with refractory leukocytopenia and thrombocytopenia / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a child affected with refractory leukocytopenia and thrombocytopenia.@*METHODS@#Clinical manifestation and auxiliary examination of the child were discussed. Whole exome next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) were used to detected potential mutations of the FANCA gene.@*RESULTS@#Repeated blood tests indicated that the child had abnormal WBC count at (2.7-3.98)×10