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Diseases of the Aorta
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
Monosomy X, or Turners syndrome (TS) is a moderately common chromosomal disorder (1 in 2500 live births), that carries with it an increased risk of aortic coarctation and dissection. The most commonly seen cardiovascular anomaly in TS is bicuspid aortic valve (13%) and this also independently increases the risk of TAD. The risk of aortic dissection in young Turners’ patients is significantly higher than the general population and dissection occurs at sizes below that at which dissection would normally be considered a risk (<5 cm). Dissection is usually Type A, although there is a correlation between aortic coarctation (present in 4–14% of TS patients) and Type B dissection. Coarctation on its own can present with aortic dissection later in life.10
Turner Syndrome (TS)
Published in S Paige Hertweck, Maggie L Dwiggins, Clinical Protocols in Pediatric and Adolescent Gynecology, 2022
Ashli Lawson, Julie Strickland
A syndrome characterized by physical findings (such as short stature, signs of gonadal dysgenesis, cardiac defects, and psychosocial impairment) and complete or partial monosomy X with or without mosaicism.
Non-Invasive Prenatal Testing (NIPT)
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Nuria Balaguer, Emilia Mateu-Brull, Miguel Milán
The frequency of SCAs is around 1.88/10,000 births (38). Testing for SCAs was first incorporated as a screening option in 2012 for monosomy X (39). This was promptly followed by testing for other SCAs, including 47, XXX; 47, XXY; and 47, XYY; which are frequently mild or asymptomatic and do not meet the classical criteria for population-based screening. However, the NIPT performance for the X and Y chromosomes is not as accurate as it is for chromosome 21 (40). The most recent meta-analysis estimated the sensitivity for monosomy X detection at 95.8% with an FPR of 0.14%. For the other SCAs, the DR was estimated at 100% and FPR at 0.004% (14) (Table 26.1).
An update on VEXAS syndrome
Published in Expert Review of Clinical Immunology, 2023
VEXAS commonly presents as a progressive systemic inflammatory disease in men above the age of 50. As a somatic X-linked syndrome, this clinical profile is logical. However, as more cases are identified there have been seven females diagnosed. Three of these cases can be explained by monosomy X; two acquired due to somatic mosaicism, whilst another had constitutional 45,X Turner syndrome [33–35]. A fourth case did have a confirmed UBA1 mutation (p.Met41Leu) with relapsing polychondritis, though the VAF was only 0.14% [36]. Two further cases were identified by screening the exomes of the Geisinger cohort (described earlier) and were both euploid with VAFs of 19.3% and 20.9%, whilst manifesting clinical disease [30]. A further case was described by Poulter et al. who, on screening 460 cytopenic females, identified a single female patient with a UBA1 mutation (p.Met41Thr, VAF 33%) associated with VEXAS [28]. Subsequent analysis found no evidence of monosomy X or microdeletion around the wildtype UBA1 allele, although this could not be completely excluded. The authors proposed that the wild-type allele could had undergone X–inactivation, though previous studies have shown that this does not occur with the UBA1 gene [37]. Certainly, further work is needed to understand disease penetrance in these cases and any that may follow. The existence of these patients highlights the need for clinicians to maintain an open mind and consider VEXAS syndrome in female patients presenting with commensurate clinical or biochemical features.
Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results
Published in Journal of Obstetrics and Gynaecology, 2022
Sureyya Saridas Demir, Erkan Cagliyan, Derya Öztürk, Samican Özmen, Sabahattin Altunyurt, Tufan Çankaya, Elcin Bora
Pregnancy outcomes were calculated according to the chromosomal analysis results found in the foetuses of the pregnant women included in the study and the results obtained are given in Table 3. Pregnancy outcomes are not known, since five of the pregnant women in the study were out of follow-up. According to the results obtained, one pregnancy with monosomy X case was detected and the pregnancy was terminated electively. Eight pregnant women with trisomy 18 chromosomal abnormalities in their foetuses were detected, six of these pregnancies were terminated electively and one of them ended as spontaneous abortion. All three patients with trisomy 21 chromosomal abnormality in their foetuses were intrauterine death. Although no chromosomal abnormality was detected in the foetuses of 10 of the pregnant women, three of the pregnancies were terminated electively, the other three were intrauterine dead, and two of them ended in live birth. Seven of the pregnant women included in the study refused the invasive procedure and the pregnancy of three of these pregnant women was intrauterine ex, one of them had spontaneous abortion, and the pregnancy of one of them ended with a live birth.
Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?
Published in Acta Clinica Belgica, 2020
An-Sofie Van De Kelft, Charlotte Lievens, Katya De Groote, Laurent Demulier, Julie De Backer, Guy T’Sjoen, Margarita Craen, Bert Callewaert, Jean De Schepper
Table 1 shows the clinical characteristics of the study population and their comparison between the different categories of dysmorphic severity. The age of the TS females ranged from 18 to 53 (mean 33.4) years and their BMI from 18.2 to 39.6 (mean 25.0) kg/m2. Monosomy X was present in 13 out of 44 women, mosaicism was present in 12/44 women and structural abnormalities of the X chromosome were present in the remaining 15 TS women. Monosomy X was found in all 3 patients with a high dysmorphism score, while only 1 of the 12 patients with a low score had a 45,X0 karyotype (data not shown). In total, 13 (29.5%) women had a standing height below 150 cm. 21 women (50%) had a BMI > 25kg/m2. SNHL and AHT were the most frequently recorded chronic disorders, affecting respectively 20 (45.5%) and 18 (40.9%) of the studied TS women. Hearing aids were used by 7 (15.9%) TS women, antihypertensive medication was taken by 16 (36.4 %) women.