作者
Lacramioara BUTNARIU, RUSU Cristina, CABA Lavinia, Monica Pânzaru, Elena Braha, Mihaela GRAMESCU, Roxana Popescu, C Bujoran, EV Gorduza
发表日期
2013
来源
The Medical-Surgical Journal
卷号
117
期号
3
页码范围
714-721
简介
Trisomy X (47, XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical signs vary by age. In prepubertal patients have a growth retardation associated with uncharacteristic facial dysmorphism, mild mental retardation with behavioral disorders, plus clinical signs of ovarian dysgenesis, postpubertal.
Aim
We analyzed retrospectively the genotype-phenotype correlations for a selected group of 36 patients diagnosed with trisomy X (homogeneous or mosaic) by cytogenetic methods (X chromatin and karyotype).
Material and methods
Analysis of the clinical data of 36 patients diagnosed with trisomy X and correlation with the results of X chromatin and karyotype.
Results
Clinical signs detected in patients with homogeneous trisomy X 47, XXX (22.22%), mosaic 46, XX/47, XXX (16.66%) or 47, XXX/48, XXXX (5.55%) were prepubertal, growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, thin lips) and postpubertal, signs of ovarian dysgenesis (secondary amenorrhea, early menopause). The phenotype of patients with different gonosomal mosaic corresponding to Turner syndrome, incorporating a cell line with trisomy X (55.55%) was variable, correlated with the type of chromosomal abnormalities detected.
Conclusions
The results of our study are similar to those obtained in other studies and emphasizes that phenotypic variability of patients with trisomy X feature makes it difficult to genotype-phenotype correlations.
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