Case Report A rare case of Turner syndrome with a special karyotype: a case report and review of literature

Turner syndrome is a chromosomal abnormality. The majority of patients show monosomy of chromosome X (45, X), while a small number of patients present (45, X/47, XXX) karyotype. The present paper reported an extremely rare case of Turner syndrome with a special karyotype of 46, X, rea (X) (qter-->q22.3::p11.23-->qter). The female patients had some typical characteristics of Turner syndrome, including short stature, cubitus valgus, left toe brachydactylia, underdeveloped breasts and so on. The ultrasound examination showed a small-sized uterus and bilateral ovaries in patients. Oral glucose tolerance test (OGTT) presented impaired glucose tolerance. Growth hormone stimulation assay revealed growth hormone deficiency. G-banding chromosome analysis indicated normal 46, XX. And FISH with locus specific probed for sex chromosome further confirmed 100% XX. Unexpectedly, high-throughput sequencing indicated an abnormal female karyotype. There were a 45.04 Mb deletion in Xp22.33p11.23, a 47.16 Mb repeated fragment in Xq22.3q28, and a 0.68 Mb repeated fragment in 3p12.3. Then, the comparative genomic hybridization assay was performed and it further confirmed the abnormal molecular karyotype.