Kleefstra syndrome 1 and ring chromosome 9 in a case / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1.@*METHODS@#Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed.@*RESULTS@#The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9.@*CONCLUSION@#The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.