Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

<p>Abstract</p> <p>Background</p> <p>Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation.</p> <p>Case Presentation</p> <p>A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype.</p> <p>Conclusion</p> <p>The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.</p

Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography

Background: Sudden death risk in Williams syndrome (WS) patients has been shown to be 25&#8211;100 times higher than in the general population. This study aims to detect coronary artery anomalies and myocardial perfusion defects in WS patients using noninvasive diagnostic methods. Methods: This study features 38 patients diagnosed with WS. In addition to physical examination, electrocardiography, and echocardiography, computed tomography (CT) angiography and rest/dipyridamole stress technetium-99m sestamibi (99mTc-sestamibi) single photon emission computed tomography (SPECT) myocardial perfusion scintigraphy (MPS) were performed. Results: Twenty-one (55%) patients were male; 17 (45%) were female. The average patient age was 12 &#177; 5 years (2.5&#8211;26 years); the average follow-up period was 7.2 &#177; 4.2 years (6 months&#8211;18 years). Cardiovascular abnormalities were found in 89% of patients, the most common one being supravalvar aortic stenosis (SVAS). CT angiography revealed coronary anomalies in 10 (26%) patients, the most common ones being ectasia of the left main coronary artery and proximal right coronary artery as well as myocardial bridging. SVAS was present in 80% of patients with coronary artery anomalies. 99mTc-sestamibi SPECT MPS revealed findings possibly consistent with myocardial ischemia in 29% of patients, and ischemia in 7 out of 10 patients (70%) with coronary anomalies shown on CT angiography (p = 0.03). Conclusions: Coronary artery abnormalities are relatively common in WS patients and are often accompanied by SVAS. CT angiography and dipyridamole 99mTc-sestamibi SPECT MPS seem to be less invasive methods of detecting coronary artery anomalies and myocardial perfusion defects in WS patients

NEW APPROACHES TO EXPLAINING THE ETIOLOGY IN RECURRENT PREGNANCY LOSSES

Recurrent pregnancy losses are seen in approximately 1-3% of the world's pregnancies and it has been a subject that has been studied for years. Pregnancy includes the production of fertile cells, fertilization, implantation, embryological development processes, the formation of the placenta, the provision of feto-maternal blood circulation and the continuity of pregnancy. Factors affecting an associated pathway in any of these processes may be the underlying cause of pregnancy loss. With the new technologies, it has started to be shown that genetic factors in etiology in pregnancy losses are not only chromosome anomalies, but also single-gene mutations or different genetic factors. The identification of new gene/s and the understanding of the activity of the pathways are compelling enough to change the diagnosis and treatment approaches in the unexplained cases group

Clinical Genetic Approach to De Novo Changes Identified in Array-CGH Analysis

Objective: In this study, it is planned to work with fluorescent in situ hybridization (FISH), quantitative polymerase chain reaction (Real-Time qPCR) or with another a-CGH platform to verify genomic imbalances detected in a-CGH examination. It is aimed to determine whether the change is clinically relevant, so that genotype-phenotype relationship can be established and contribute effective genetic counseling

Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl.

EDITOR—Application of chromosome painting has enabled confirmation that an additional segment in a presumed tandem duplication originates from the rearranged chromosome. More recent studies to determine more accurately the exact amount of duplication with cosmid FISH probes have, in a few instances, shown that some of the presumed duplications were in fact triplications of smaller segments.1-7 In some of these patients, unequal distances between the FISH signals showed that the middle segment of the tandemly arrayed three segments was in the opposite orientation to the two flanking segments,1 3 4 thus providing clues to the possible mechanism of formation. Here we report on the clinical, cytogenetic, and molecular analysis of a patient displaying the same type of triplication for segment 13q14 including the retinoblastoma gene, again with opposite orientation of the middle segment