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Craniosynostosis, the premature closure of cranial sutures, is a common craniofacial disorder with heterogeneous etiology and appearance. The purpose of this study was to investigate the clinical and molecular characteristics of craniosynostoses in Hungary, including the classification of patients and the genetic analysis of the syndromic forms. Between 2006 and 2012, 200 patients with craniosynostosis were studied. Classification was based on the suture(s) involved and the associated clinical features. In syndromic cases, genetic analyses, including mutational screening of the hotspot regions of the FGFR1, FGFR2, FGFR3, and TWIST1 genes, karyotyping and FISHstudy of TWIST1, were performed. The majority (88%) of all patients with craniosynostosis were nonsyndromic. The sagittal suture was most commonly involved, followed by the coronal, metopic, and lambdoid sutures. Male, twin gestation, and very low birth weight were risk factors for craniosynostosis. Syndromic craniosynostosiswas detected in 24 patients. In 17 of these patients, Apert, Crouzon, Pfeiffer, Muenke, or Saethre-Chotzen syndromes were identified. In one patient, multiple-suture craniosynostosis was associated with achondroplasia. Clinical signs were not typical for any particular syndrome in six patients. Genetic abnormalities were detected in 18 syndromic patients and in 8 relatives. In addition to 10 different, known mutations in FGFR1, FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome. Our results indicate that detailed clinical assessment is of paramount importance in the classification of patients and allows indication of targeted molecular testing with the highest possible diagnostic yield. [ABSTRACT FROM AUTHOR]

The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions to less severe malformation known as subcortical band heterotopia. Mutations involving LIS1 and TUBA1A result in the classic form of lissencephaly, whereas mutations of the DCX gene cause lissencephaly in males and subcortical band heterotopia in females. This report describes the clinical manifestations and imaging and genetic findings in 2 boys with lissencephaly and a girl with subcortical band heterotopia. An ovel mutation (c.83_84delAT, p.Tyr28Phefs*31) was identified in LIS1 in 1 of the boys with lissencephaly and another novel mutation (c.200delG, p.Ile68Leufs*87) was found in DCX in the girl with subcortical band heterotopia. The mutations appeared in the first half of the genes and are predicted to result in truncated proteins. A mutation was found in the TUBA1A gene (c.1205G>A, p.Arg402His) in the other boy. This mutation affects the folding of tubulin heterodimers, changing the interactions with proteins that bind microtubules. [ABSTRACT FROM AUTHOR]

Male carriers with balanced reciprocal translocations can produce a variable proportion of unbalanced gametes resulting in reproductive failures. The presence of a structural rearrangement may induce an interchromosomal effect. This is characterized by abnormal bivalents not involved in the reorganization thereby yielding non-disjunction, which would present as aneuploid spermatozoa for these chromosomes. In the present case report segregation analysis of the sperm and investigation of interchromosomal effect were carried out using cytogenetic and fluorescence in situ hybridization (FISH) analysis on blood lymphocytes. The karyotype of the patient was 46,XY,t(3;6)(q21;q23). During sperm segregation analysis a total of 2,002 sperms were evaluated, of which 46.8% showed normal/balanced (alternate segregation mode) and 53.2% of sperm showed an abnormal signal pattern. A significant difference in the frequency of the estimated number of chromosome anomalies was observed in the translocation carrier when compared to the normozoospermic group ( P < 0.0001) and the oligozoospermic group ( P < 0.0001). Meiotic segregation analysis of sperm together with aneuploidy assessment for X, Y, and 17 chromosomes using FISH allows for the determination of a reproductive prognosis in male balanced translocation carriers and can be used for appropriate genetic counseling. [ABSTRACT FROM AUTHOR]

Cryptic subtelomeric chromosomal aberrations are responsible for 5-10% of moderate/severe and 1% of mild intellectual disability. Unbalanced subtelomeric chromosomal rearrangements result in variable phenotypes which seem to be highly influenced by both the size of the duplication/deletion and the chromosomes involved in the translocation. We report on three related patients with moderate intellectual disability, language delay, hypotonia, facial dysmorphism, cardiac anomalies, scoliosis, and kyphosis in whom a familial (maternal) unbalanced submicroscopic translocation was found by subtelomeric fluorescence in situ hybridization (FISH). This rearrangement resulted in a partial trisomy 10pter and partial monosomy 21qter. The karyotype was 46,XY.ish der(21)t(10;21)(p14;q22.2). Confirmation of a 6.7 Mb size distal duplication of the p15.3-14 region of chromosome 10 and a 5.6 Mb distal deletion of the q22.2-22.3 region of chromosome 21 was obtained by array-CGH. To our best knowledge, such a composition of subtelomeric unbalanced translocations has not yet been published. Detection of this aberration in successive pregnancies of carrier members of the family by prenatal FISH could prevent the recurrence of the disease. Furthermore, detection of the rearrangements and identification of genes located in the chromosomal regions involved might be of interest. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Infertile men with low sperm concentration and/or less motile spermatozoa have an increased risk of producing aneuploid spermatozoa. Selecting spermatozoa by hyaluronic acid (HA) binding may reduce genetic risks such as chromosomal rearrangements and numerical aberrations. Fluorescence in-situ hybridization (FISH) has been used to evaluate the presence of aneuploidies. This study examined spermatozoa of 10 oligozoospermic, 9 asthenozoospermic, 9 oligoasthenozoospermic and 17 normozoospermic men by HA binding and FISH. Mean percentage of HA-bound spermatozoa in the normozoospermic group was 81%, which was significantly higher than in the oligozoospermic (P < 0.001), asthenozoospermic (P < 0.001) and oligoasthenozoospermic (P < 0.001) groups. Disomy of sex chromosomes (P = 0.014) and chromosome 17 (P = 0.0019), diploidy (P = 0.03) and estimated numerical chromosome aberrations (P = 0.004) were significantly higher in the oligoasthenozoospermic group compared with the other groups. There were statistically significant relationships (P < 0.001) between sperm concentration and HA binding (r = 0.658), between sperm concentration and estimated numerical chromosome aberrations (r = -0.668) and between HA binding and estimated numerical chromosome aberrations ( r= -0.682). HA binding and aneuploidy studies of spermatozoa in individual cases allow prediction of reproductive prognosis and provision of appropriate genetic counselling. [ABSTRACT FROM AUTHOR]

Background and Purpose: Population-based screening is an option to identify persons at high risk for stroke. However it is associated with rather high expenses, necessitating the selection of effective methods that take local characteristics into account. The 12th district of Budapest has a long tradition of population-based screening for frequent and preventable diseases. The Szent János Hospital hosts an annual stroke screening day. In the present study, previously published data from the 2011 screening were compared with those obtained in 2016, looking for changes and tendencies throughout the examined period., Methods: The screening day was conducted in a generally similar way in 2011 and 2016. Similarly to the previous event, the program was organized on a Saturday, the call for the event was spread by the local newspaper. The crew composition was the same. As regards the components of the screening (currently including general history taking, risk status assessment, blood pressure measurement, BMI assessment, cholesterol and blood glucose tests, carotid duplex ultrasonography, and ophthalmological examination), the only difference was the absence of cardiologic examination (it was conducted on an independent day). The anonymous data sheet was the same., Results: The number of participants in the 2016 event was 33, to provide more comfortable conditions. The female predominance was slightly less pronounced but was still present in 2016 (60.6% vs. 72.9%). The mean age became substantially higher (71.2 y vs. 62.9 y). The ratios of participants with higher level of education (97% vs. 94%) and those who are married were still remarkable. The most frequent risk factors were the same; however the ratio of participants with hypertension, 'other heart disease', and diabetes increased, whereas that of with hyperlipidemia and obesity decreased. The incidence of atrial fibrillation was unaltered. None of the participants in 2016 admitted smoking (previously this ratio was 20.8%) or drinking heavily. The findings of the carotid ultrasonography revealed a more favorable vascular status. Ophthalmological assessments (predominantly hypertensive alterations on fundoscopy) revealed that the pathological vs. physiological ratio switched to 1:2 from 2:1. The final evaluation of the screening program likewise demonstrated an improved overall state of health of the population., Conclusion: We observed a more favorable stroke risk status of the population in 2016. Whether it is indeed a tendency unknown at present. The role of the local media in calling for screening is still decisive, and the cohesive power of the family is important.