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, Rezazadehma@tbzmed.ac.ir
Abstract:   (455 Views)
Turnerchr(chr('39')39chr('39'))s syndrome is one of relatively common chromosomal disorders characterized by the absence of all or part of one sex chromosome, with a prevalence of near one in 2500 live birth females. Most typical clinical characteristics of this syndrome are include primary amenorrhea, hypogonadism, short stature, digital anomalies, low hair line at the back of the neck. A large number of affected individuals have a 45,X monosomy, nevertheless other structural abnormalities of X chromosome or 45,X with cell line mosaicism can also fulfill the criteria. In this study we present two rare cases of Turnerchr(chr('39')39chr('39'))s syndrome with 46,X,dic(X) and 45,X(60%)/46,X,dicX(40%) who exhibiting amenorrhea due to gonadal dysgenesis alongside other features of the syndrome. In addition we discussed some possible reasons for genotype and phenotype aspect of this disorders. Therefore, prenatal and newborn screening of Turnerchr(chr('39')39chr('39'))s syndrome for early detection and hormone therapy should be suggested. For parents with affected child peripheral blood karyotyping is recommended.
Type of Study: Case report | Subject: Genetic
Received: 2020/07/27 | Accepted: 2020/11/3

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