Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences. Our study reflects the experience of three Romanian cytogenetic laboratories in the field of ring chromosomes. We present six cases with ring chromosomes involving chromosomes 5, 13, 18, and 21. All ring chromosomes were identified after birth in children with plurimalformative syndromes. The ring chromosome was present in mosaic form in three cases, and this feature reflects the ring’s instability. In case of ring chromosome 5, we report a possible association with oculo-auriculo-vertebral spectrum.
Childhood obesity has become a global public health issue and its assessment is essential, as an obese child is a future overweight or obese adult. Obesity is no longer a matter of exercising more and eating less, with several factors coming into play and dictating the pattern of fat accumulation and the ease/difficulty of reducing it. In the current paper, we aimed to analyze the cardiovascular impact of obesity in a large number of patients alongside the paraclinical changes that occur due to weight gain, and to perform an analysis on the increase in prevalence throughout our research. The main cardiovascular conditions identified were hypertension (15.36%), septal or concentric hypertrophic cardiomyopathy (11.15%), atherosclerosis risk (13.04%), and hypercholesterolemia (20.94%). We have used echocardiography to measure the thickness of epicardial adipose tissue (useful for assessing the patient’s cardiovascular risk), and we observed that it was greater in children with moderate and severe obesity alongside diastolic dysfunction of the left ventricle in the whole group, without any connection with hypertension or coronary impairment. Obese children will be affected by increased cardiovascular mortality and morbidity in adulthood and they may experience early cardiovascular dysfunction. We want to strongly underline the importance and necessity of programs for the early detection and prevention of obesity and its complications, especially since interesting phenomena such as the “obesity paradox” exist and prove that obesity is far less understood than it is at a first glance.
We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26–q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy’s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.
Congenital anomalies may be determined by genetic or environmental factors or a combination of the two factors. Maternal disease can affect fetal development through specific effects of metabolic products or maternal antibody transfer. Identifying mothers and pregnancies at risk as well as providing a teratogenic risk discussion and appropriate documentation is aimed at reducing potential teratogenic effects of maternal diseases.
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