background: recurrent abortion is a difficult medical problem happening in about 1-2% of fertile women. most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities. objective: the present study tries to find the rate of chromosomal abnormalities in couples with recurrent pregnancy loss. materials and methods: in total 165 couples were re...

We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...

X-linked neutropenia (XLN) is a rare form of Congenital Neutropenia (CN) caused by inherited gain-of-function mutations of WAS. Here we report 2 cases of the original L270P X-linked neutropenia kindred that evolved to MDS or AML, with acquisition of G-CSFR (CSF3R) mutations and monosomy 7. Thus, leukemic transformation with acquisition of CSF3R mutations and monosomy 7 is not restricted to clas...

Objective Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. Methods A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 198...

Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study inves...

Sir The risk of developing thyroid dysfunction is higher in Turner syndrome (TS) than the general population 1,2 . In previous studies, the influence of karyotype 3 and thyroid autoantibodies 4 on thyroid disorder in patients with TS has been investigated. We therefore set out to determine the prevalence of thyroid dysfunction in Irish girls with TS. The impact of underlying karyotype and thyro...

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echoc...

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echoc...