The loss of heterozygosity localized at chromosome segment 8p11.2 causes a contiguous gene syndrome, which mostly combined phenotype of Kallmann syndrome and hereditary spherocytosis. It has been documented that this combined phenotype is in association with both the deletion of the fibroblast growth factor receptor 1 (FGFR1) and ankyrin 1 (ANK1) genes. Here, we described a 6-year-old girl with microcephaly, global developmental delay, mental retardation, and hereditary spherocytosis, associated with a heterozygous pathogenic microdeletion of 1.9 Mb size at 8p11.21. Molecular analysis confirmed that the identified microdeletion contained two OMIM (Online Mendelian Inheritance in Man)genes, including ANK1 and lysine acetyltransferase 6 A (KAT6A), but not FGFR1. Therefore, the simultaneous occurrence of mild developmental delay and distinctive facial in this patient was associated with the pathogenic variation of the KAT6A.

杂合性丧失位于染色体片段8p11.2处会导致连续的基因综合征，这种综合征主要是结合了Kallmann综合征的表型和遗传性球囊病。已经证明，该组合表型与成纤维细胞生长因子受体1（FGFR1）和锚蛋白1（ANK1）基因的缺失有关。在这里，我们描述了一个6岁的小头畸形，整体发育迟缓，智力低下和遗传性球菌病的女孩，在8p11.21杂合的病原体微缺失1.9 Mb。分子分析证实，鉴定的微缺失包含两个OMIM（人类在线孟德尔遗传）基因，包括ANK1和赖氨酸乙酰转移酶6 A（KAT6A），而不是FGFR1。因此，在该患者中同时发生的轻度发育迟缓和面部特征与KAT6A的致病性变异有关。