A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1

作者：Christensen R D^*; Wiedmeier S E; Yaish H M

来源：Journal of Perinatology, 2013, 33(3): 242-244.

DOI：10.1038/jp.2012.53

• platelets
• thrombocytopenia
• congenital amegakaryocytic thrombocytopenia
• neonatal alloimmune thrombocytopenia
• mean platelet volume
• RUNX1

We observed a neonate who had severe thrombocytopenia wherein evaluations for neonatal immune-mediated thrombocytopenia and congenital infections were negative, and the marrow findings were consistent with congenital amegakaryocytic thrombocytopenia (CAMT). A genomic microarray identified a microdeletion at 21q22.11 including the gene RUNX1. Two somewhat similar cases were recently reported, but with multiple congenital anomalies that are not present in our case. We propose that a 21q22 deletion resulting in RUM haploinsufficiency can produce a phenotype similar to CAMT with various associated anomalies depending on which adjacent genes are absent or disrupted. Journal of Perinatology (2013) 33, 242-244; doi:10.1038/jp.2012.53

• 出版日期2013-3