Parents' Behavior Related to Caries Status of Children with Down Syndrome in Surabaya

Background. Down syndrome (DS) is a chromosome disorder due to the presence of all or part of a third copy of chromosome 21 (trisomy 21) caused by a failure in chromosome segregation. Following Riset Kesehatan Dasar (RISKESDAS) in 2013, the number of people with DS in Indonesia increased compared to 2010, with an estimated 924 children with DS in Surabaya. Data regarding caries status in children with DS in Surabaya is limited. Objective. To evaluate parents’ behavior (predisposing, enabling, and reinforcing factors) related to the caries status of children with DS. Methods. This observational analytic cross-sectional study included children aged ≤18 years with DS and parents who were members of the Parents' Association of Children with Down Syndrome (POTADS). Caries status were measured using the DMF-T/def-t score, and parents were asked to fill out a questionnaire. Data were analyzed using Spearman’s correlation test. Result. We included 46 children with DS in this study. The DMF-t / def-t index of children with DS (7.2) was categorized as very high according to WHO. There was a significant relationship between lack of knowledge of parents and caries status in children with DS. Enabling factors and reinforcing factors were not significantly correlated with caries status. Conclusion. Parents' behavior is correlated with the caries status of children with DS. All combination of three factors behavior, including predisposing, enabling and reinforcing, are needed to reduce the number of caries in children with DS.

Cardiovascular Complications in Patients with Klinefelter’s Syndrome

More than 70 years have passed since the first description of Klinefelter Syndrome (KS), the most frequent chromosome disorder causing male infertility and hypogonadism. KS is associated with increased cardiovascular (CV) mortality due to several comorbidities, including hypogonadism, as well as metabolic syndrome and type 2 diabetes, which are highly prevalent in these patients. Aside from metabolic disturbances, patients with KS suffer from both acquired and congenital CV abnormalities, cerebrovascular thromboembolic disease, subclinical atherosclerosis and endothelial dysfunction, which may all contribute to increased CV mortality. The mechanisms involved in this increased risk of CV morbidity and mortality are not entirely understood. More research is needed to better characterise the CV manifestations, elucidate the pathophysiological mechanisms and define the contribution of testosterone replacement to restoring CV health in KS patients. This review explores the complex association between KS, metabolic syndrome and CV risk in order to plan future studies and improve strategies to reduce mortality in this high-risk population.

Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations

Turner syndrome is a common sex chromosome disorder affecting females. The disorder is caused by a partial loss, complete absence, or structural abnormality of one X chromosome. The clinical presentation is broad and ranges from the classic phenotype to minimal clinical manifestations. Ocular abnormalities associated with the syndrome are common. Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, epicanthal folds, and ptosis. Posterior ocular segment anomalies involving the optic nerve and retina in Turner syndrome have been rarely reported. We report a rare presentation of an 11-year-old female with Turner syndrome and unilateral morning glory disc anomaly.

Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age

This chapter reviews the archetypical chromosome disorder, namely Down syndrome (DS; trisomy 21), and the various different chromosomal forms that may be the basis of it: standard trisomy 21, translocation trisomy, both de novo and inherited, and other rare forms. The concept of dosage imbalance as the basis of the pathogenesis is reviewed, and the “DS critical region” on chromosome 21 is examined. Reproductive risks associated with each of these DS types are discussed. The chapter considers the other full autosomal trisomies, T13 and T18, and also (mosaic) T9. Triploidy, as the basis of hydatidiform mole, is reviewed. Also reviewed are the influence of parental, mostly maternal, age, in the genesis of these aneuploidies, and the effect of secular change on these observations. Tables provide precise age-related risk figures for recurrence risk of T21 and more general figures for other trisomies.

Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling

Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. These families may themselves have had a child affected with a chromosome condition; or, there may have been a history elsewhere in the family. The presentation may have been due to infertility or reproductive loss. Questions may include the following: What is known about this condition? What caused this to happen? Is it likely to happen again? If so, is there a way to prevent it from happening again? The power of molecular approaches to chromosome analysis, coming to be routinely available in this second decade of the twenty-first century, has brought to our knowledge many new “chromosomal syndromes” to add alongside those long known from the days of classical cytogenetics. This new knowledge has increased our ability to answer the questions that families may have; but equally, it has raised challenges in interpretation, as molecular karyotyping has revealed more complexity in the way the human genome is constructed. This book distils the knowledge that has evolved in recent and olden times, and it presents the information in a way that will be helpful to the practitioner. In particular, the risks of recurrence, or of occurrence, of a particular chromosome disorder are clearly set forth. The application of chromosomal knowledge to reproductive conditions, both diagnostically and in management, is rehearsed.

Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years

Background:Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood.Case presentation:We report a male patient with ACH and KS, diagnosed in early infancy because of his typical phenotype of ACH. The diagnosis was confirmed by molecular analysis revealing a de novo heterozygous 1138 G-to-A mutation of theConclusions:This is the first reported case with both conditions that was diagnosed in infancy and was longitudinally followed by a pediatric endocrinology team regularly, from infancy to late adolescence. With a typical phenotype of ACH, it is striking and noteworthy that he did not develop the classical endocrine complications of a child with KS, neither did he necessitate testosterone supplementation during his pubertal development, due to his normal virilization and testosterone levels.