Unique Female Patient with <i>de novo</i> 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Review

Abstract

6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and secondary amenorrhea. To our knowledge, neither abnormality in one patient has yet been reported. A 10-year-old girl with de novo 6q22.31q27 duplication and Xq28 deletion was diagnosed by chromosomal microarray and confirmed by fluorescence in situ hybridization. The presence of two rare specific chromosomal disorders is possible and must be considered in genetic counseling. A second chromosomal abnormality may be considered in cases with a diagnosed syndrome but uncommon clinical features.