Influence of Parental Origin of the X Chromosome on Clinical Features, Associated Complications and the Two-Year Response to Growth Hormone (rhGH) of Patients with Turner Syndrome (TS)

Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

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Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

Case Reports in Endocrinology ◽

10.1155/2018/3796415 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Hanane Latrech ◽

Houssein Madar ◽

Ahmed Gaouzi

Keyword(s):

Turner Syndrome ◽

Clinical Features ◽

X Chromosome ◽

Gonadal Dysgenesis ◽

Clinical Presentation ◽

Sex Chromosome ◽

De Novo ◽

First Case ◽

Chromosome Disorder ◽

De Novo Translocation

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

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Parental Origin of the X-Chromosome Does Not Influence Growth Hormone Treatment Effect in Turner Syndrome

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2011-3488 ◽

2012 ◽

Vol 97 (7) ◽

pp. E1241-E1248 ◽

Cited By ~ 10

Author(s):

Marie Devernay ◽

Diana Bolca ◽

Lamia Kerdjana ◽

Azzedine Aboura ◽

Bénédicte Gérard ◽

...

Keyword(s):

Turner Syndrome ◽

X Chromosome ◽

Treatment Effect ◽

Hormone Treatment ◽

Population Based ◽

First Year ◽

Parental Origin ◽

Gh Treatment ◽

Height Gain ◽

Previously Treated

Abstract Context: The parental origin of the intact X-chromosome has been reported to affect phenotype and response to GH treatment in Turner syndrome (TS). Objective: Our objective was to evaluate the influence of the parental origin of the X-chromosome on body growth and GH treatment effect in TS. Design and Setting: We conducted a population-based cohort study of TS patients previously treated with GH. Participants: Participants included patients with a nonmosaic 45,X karyotype; 556 women were identified as eligible, 233 (49%) of whom participated, together with their mothers. Data were analyzed for 180 of these patients. Main Outcome Measures: We performed fluorescence in situ hybridization analysis to exclude mosaicism and microsatellite analysis of nine polymorphic markers in DNA from the patients and their mothers. The influence on growth and effect of GH were analyzed by univariate and multivariate methods. Results: The X-chromosome was of paternal origin (Xpat) in 52 (29%) of 180 and of maternal origin (Xmat) in 128 (71%) of 180 patients. Height gain from the start of GH treatment to adult height was similar in Xmat and Xpat patients (+2.1 ± 0.9 vs. +2.2 ± 0.8 TS sd score, P = 0.45). The lack of influence of parental origin of the X-chromosome was confirmed in multivariate analysis. Parental origin of the X-chromosome also had no effect on the other growth characteristics studied, including growth velocity during the first year on GH treatment. Patient height was correlated with the heights of both parents and was not influenced by the parental origin of the X-chromosome. Conclusion: In this, the largest such study carried out to date, the parental origin of the X-chromosome did not alter the effect of GH treatment or affect any other features of growth in TS.

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