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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
Developmental Disorders
Published in Jeremy R. Jass, Understanding Pathology, 2020
Congenital malformations have been known to humankind since the dawn of time. Serious malformations are due to a localised error of structural development occurring in the eight weeks following conception. Milder defects (included in Table 10) develop later. One malformation may lead to another and be caused by genetic factors, by environmental factors or by a combination of the two. The genetic causes are classified into chromosomal and single gene disorders. A chromosomal disorder implies an abnormality that can be visualised by the technique of preparing a chromosome spread from a dividing cell and examining the stained chromosomes under a microscope (karyotyping). Abnormalities may include an extra chromosome (e.g. trisomy 21 causing Down’s syndrome), an absent chromosome (e.g. XO causing Turner’s syndrome), deletion of part of a chromosome, inversion of part of a chromosome or a translocation of one part of a chromosome to another. Chromosomal disorders usually arise during gametogenesis and are generally not transmitted since affected individuals either die at birth or are sterile.
Aicardi Syndrome and Klinefelter Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Klinefelter syndrome is the most common sex chromosomal disorder, affecting 1 in 500–700 newborn males who possess one or more extra X chromosomes. Clinically, the disease is characterized by primary infertility, atrophic testes, hypergonadotropic hypogonadism, gynecomastia, eunuchoidism, decreased facial and body hair, tall stature with eunuchoid body proportions, neurocognitive impairment, learning difficulties and behavior problems, and increased risk of autoimmune diseases and tumors (e.g., breast cancer and extragonadal GCT).
Value of Placental Examination in the Diagnostic Evaluation of Stillbirth
Published in Fetal and Pediatric Pathology, 2022
The fetal causes (14/147 cases, 9%) encompassed chromosomal and non-chromosomal malformations which included those of the central nervous system (hydrocephalus, type II Chiari malformation, vein of Galen aneurysmal dilation), McKusick-Kaufman syndrome, lethal polymalformative syndrome associated with chromosomal aberration (trisomy 18, two cases) or strongly suspected to be chromosomal disorder (not cytogenetically investigated, eight fetuses, 5%) because of the characteristic placental histologic features of aneuploidy. The aneuploid placental villi displayed an important immaturity with a thickened layer of trophoblast and hypovascular reticular stroma. Their contours were typically very irregular delineating deep invaginations, and their stromal axis showed central cystic spaces and pseudo-rosettes.
Hypoplastic left heart syndrome (HLHS): molecular pathogenesis and emerging drug targets for cardiac repair and regeneration
Published in Expert Opinion on Therapeutic Targets, 2021
Anthony T Bejjani, Neil Wary, Mingxia Gu
In addition to single-gene mutation, chromosomal deletions have also been shown to cause CHDs. In particular, patients with Jacobsen syndrome, a chromosomal disorder characterized by the deletion of the distal end of chromosome 11q, often develop serious CHDs, 5–10% of which are HLHS [30]. Ye et al. showed that deleting ETS-1, a gene found in the distal end of chromosome 11, leads to the development of ventricular septal defects and a non-apex forming LV, a characteristic of HLHS hearts [30]. This not only highlights the role of ETS-1 in proper cardiogenesis but also shows that HLHS is a more complex defect that is the result of several contributing factors. Table 1 summarizes some of the genes/chromosomal disorders that have been associated with HLHS directly, or a CHD commonly present in HLHS hearts.
Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome
Published in Gynecological Endocrinology, 2021
Jie Chen, Miao Guo, Min Luo, Shan Deng, Qinjie Tian
Turner syndrome (TS) is a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations. The incidence of TS in newborn girls is 1/2500 [1] and is one of the most common disorders of sexual development (DSD). The main clinical manifestations of TS include short stature, primordial uterus, gonadal hypoplasia, mammary hypoplasia, infantile genitalia, and certain body signs, such as webbed neck, and cubitus valgus [2]. The karyotype in TS ranges from complete 45,X to forms of mosaicism in which there is a normal (46,XX or 46,XY) cell line or an abnormal second (or third) cell line in a female [3]. Compared to patients with a 45,X karyotype, the presence of a Y chromosome detected by standard karyotype or FISH (fluorescent in situ hybridization) is associated with an increased risk of gonadoblastoma [4].