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SM ISO690:2012 SPRINCEAN, Mariana, BARBOVA, Natalia, HALABUDENCO, Elena, MIŞINA, Ana, SAMOILENCO, Tatiana. Particularităţile polimorfismului clinic şi citogenetic în sindromul turner. In: Buletin de Perinatologie, 2012, nr. 3, pp. 36-41. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 3 / 2012 / ISSN 1810-5289 | ||||||
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Pag. 36-41 | ||||||
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Background: In the study are analyzed peculiarities of clinical manifestations and cytogenetic features in Turner
syndrome, which is a sex chromosomal abnormality, characterized by loss of gonosome (total or partial) with or
without mosaics.
Material and methods: A group of 68 children with Turner syndrome was investigated during medical genetic
counseling in the National Center for Reproductive Health and Medical Genetics.
Results: The most characteristic features of patients with Turner syndrome are: short stature - 97%, incomplete
sexual maturation 95%, cubitus valgus – 48%, pterygium colli – 44%, short neck – 42%, palatine arch - 37%, multiple
nevus - 23%, lymphedema - 24%, nail dysplasia - 13%, scoliosis - 12%, Madelung deformities - 6%. The frequency
of cytogenetic variants of Turner Syndrome: 1. homogeneous form or X monosomy - 45 X - 53% of cases; 2. mosaic
form - 45, X/46 XX 45, X/46, XY - 11.8% cases; 3. structural abnormalities of sex chromosome - 46, xix, 46, X delX,
46, XdicX, 46, XRX - 17.6% cases; 4. mosaicism with structural abnormalities of X chromosome - 46, XX/46XiX/45,
X - 2.9% of cases and other chromosome - 46, XY - 14.7% cases.
Conclusions: Peculiarities of phenotypic manifestations in girls with Turner syndrome may recommend the diagnosis
in the early neonatal period, however up to 60% of patients are not diagnosed during early childhood because
of lack of complaints of family and the late visits to geneticist. Karyotype in Turner syndrome is highly variable and
different, in 53% of cases being the homogeneous form or X monosomy - 45, X. |
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Cuvinte-cheie Turner syndrome, medical genetic counseling, Diagnosis, karyotype |
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