Turner syndrome caused by rare complex structural abnormalities involving chromosome X

Abstract

Abstract. Turner syndrome (TS) is a phenotypic heterogeneous genetic disorder caused by the loss of an X-chromosome or X-structural abnormalities in the X-chromosome, and affects approximately 1 in every 2,500 females. The affected individuals may develop diverse clinical features, including short stature, ovarian dysgenesis, skeletal dysplasia, facial abnormalities and other disorders. A constitutional karyotype of 45, X accounts for nearly 50% of TS patients, while X-mosaicism and other X-chromosomal structural abnormalities, including deletions, duplications, ring, isodicentric chromosomes, inversions and translocations, have been reported in other cases. The present study reports the results of chromosome microarray analysis (CMA) in two Chinese female TS patients with idiosyncratic karyotypes. The first patient had a karyotype of 46, X, der(X), and the CMA results demonstrated that the derivative chromosome was an abnormal X-chromosome that consisted of three deletions (Xp21.3-p11.23, Xp11.1-q13.1 and Xq21.31-q28), as well as three duplications (Xp22. . The karyotype of the second patient was 46, X, der(X) t(X;?)(q 22.1;?),inv(11) (q13.5q21), while CMA revealed an Xq21.2-q27.1 duplication and an Xq27.2-q28 deletion. In conclusion, the current study performed genotype-phenotype correlation analysis in two patients and provided novel insight of the genotype of TS.

Clinical investigation of the primary and secondary amenorrhea by cytogenetic analysis

“…In no uterus patients, the percentage of CA is 54.5% (12) and normal karyotype 45.5% (10); both are almost the same. In hypoplastic uterus patients, the normal karyotypeis 87.3% (48) and CA are 12.7% (7). In comparison with normal and abnormal karyotypes, patients with hypoplastic uterus patients are with normal karyotype.…”

“…It is, generally, caused by the complete or partial loss of chromosome X and affects around 1 in every 2500 females. Short stature and ovarian insufficiency are characteristic features that occur in >90% of TS patients [7]. The goal of this study is to determine the cytogenetic pattern among amenorrhea patients and how it relates to their phenotype present in the primary and SA in Indian patients.…”

Complex sSMC Involving X and Y Chromosomes in two Patients with 45,X/46,X,+mar Karyotype

“…Complex sSMC of P1 had two copies of SHOX gene, and patient 2 one copy. SHOX haploinsufficiency have been associated with short stature and various skeletal features in TS patients, such as scoliosis, high arched-palate, and micrognathia (Li et al, 2017). The short stature in P1 should be due the presence of a 45,X cell line.…”

Psychiatrische Komorbidität beim Ullrich-Turner-Syndrom

“…Individuelle zytogenetische genotyp-phänotypische Analysen wie von Li et al [30] dargestellt, könnten die Subtypisierung vorantreiben, allerdings erscheint es aufgrund der vielfachen möglichen Mutationsvarianten und der notwendigen hohen Fallzahlen ein schwieriges Unterfangen zu sein.…”