Turner syndrome patients with a ring X chromosome

@article{Berkovitz1983TurnerSP,
  title={Turner syndrome patients with a ring X chromosome},
  author={Gary D. Berkovitz and Judith Stamberg and Leslie P. Plotnick and Roberto Lanes},
  journal={Clinical Genetics},
  year={1983},
  volume={23}
}
A patient with clinical features of Turner syndrome and a 45, X karyotype in repeated blood cultures was re‐evaluated when she spontaneously entered puberty. A ring X cell line was found in a small proportion of fibroblasts. A review of 35 previously published ring X cases is presented. All are mosaic, the major cell line in most cases being 45, X. There is wide variation in the frequency with which the abnormalities associated with Turner syndrome are found in these patients. All have short… 
Three patients with ring (X) chromosomes and a severe phenotype.
Three patients with mosaicism and a cell line containing a small ring (X) chromosome are described. Their phenotype is similar to several previously reported patients with a 45,X/46,X,r(X) karyotype
A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.
TLDR
The ring (X) patients lacked many of the "classic" Turner's syndrome features and the majority were not karyotyped until after the age of 11, usually because of pubertal failure, and showed a reduction in IQ compared with the 45,X group.
Decoding enigma: Turner syndrome with ring chromosome
  • Debarup Das, Debaditya Roy, K. Basu, A. Sarkar
  • Medicine
    Oxford medical case reports
  • 2021
TLDR
The ring chromosomal pattern of karyotype in this patient and DCM is a rare cardiological phenomenon that can be associated with Turner syndrome, making this case a unique one.
An atypical Turner syndrome patient with ring X chromosome mosaicism.
Small marker chromosomes (SMC) associated with severe Turner syndrome (TS) variants often represent reduced X chromosomes lacking the X inactivation center (XIC), perturbed dosage compensation, and
X-ring Turner’s syndrome with combined immunodeficiency and selective gonadotropin defect
TLDR
An attempt is made to explain the coexistence of the three abnormal pictures in a young woman with short stature, recurrent pulmonary infections and primary amenorrhea with chromosomal, immunological and endocrine defects.
[Turner's syndrome--correlation between karyotype and phenotype].
  • K. Lacka
  • Biology, Medicine
    Endokrynologia Polska
  • 2005
TLDR
Current data concerning correlation between phenotype and karyotype in patients with TS have been presented and it is suggested that linkage between phenotypes and adequate genes or regions of X chromosome is searched for.
Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X)
TLDR
This work describes a 2.5‐year‐old male patient with facial dysmorphia, growth retardation, microcephaly, global developmental delay, and microphallus, and FISH analysis of the r(X) chromosome with an XIST probe showed that the XIST locus was absent.
The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females
TLDR
The results indicate that the proportion of FXD cells may be associated with the severity of MR in mosaic ring X Turner syndrome females, although this association should be confirmed by examining brain cells during development.
Molecular diagnosis of Turner's syndrome.
TLDR
DNA analysis appears to be a useful and rapid tool in screening for Turner's syndrome and could be an alternative to cytogenetic analysis in diagnosing the disorder when severe growth retardation or delayed puberty are not accompanied by a Turner phenotype.
Prenatal diagnosis of a small supernumerary, XIST‐negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus
TLDR
The fetus described is the first male with a mosaic XIST‐negative r(X) chromosome identified at prenatal diagnosis and was probably the result of functional disomy of the genes in the r( X) chromosome, secondary to loss of the XIST locus.
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