No aggression in a 4-year-old boy with an androgen-producing tumour: Case Report

BACKGROUND: The androgen testosterone plays a critical role in many aspects of sexual differentiation. Also, it is thought to induce aggressive behaviours or to play a role in social dominance. CASE PRESENTATION: In this case report a 4-year-old boy is described whose testosterone and dehydroepiandrosterone sulphate (DHEA-S) levels were raised to pubertal levels due to a testosterone producing testis tumour. This provided the unique opportunity to examine the effects of elevated levels of androgens on levels of aggression or on social dominance before the onset of puberty. CONCLUSION: The present case report does not support the hypothesis of a causal relationship between testosterone and aggression or between testosterone and social dominance in young children

A high-resolution CNV map across Brown Swiss cattle populations.

Genomic studies and their use in selection programs are having a strong impact in dairy cattle selection (E. Liu et al., 2010). The first aim was to create a high resolution map of CNV regions (CNVRs) in Brown Swiss cattle and the characterization of identified CNVs as markers for quantitative and population genetic studies. CNVs were called in a set of 164 sires with PennCNV and genoCN. PennCNV identified 2,377 CNVRs comprising 1,162 and 1,131 gain and loss events, respectively, and 84 regions of complex nature. GenoCN detected 41,519 CNVRs comprising 3,475 and 34,485 gain and loss events, respectively, and 3,559 regions of complex ones. Consensus calls between algorithms were summarized to CNVRs at the population level. GenoCN was also used to identify total allelic content in consensus CNVRs. Moreover, population haplotype frequencies were calculated. Linkage disequilibrium (LD) was established between CNVs and SNPs in and around CNVRs. In this study the potential contribution of CNVs as genetic markers for genome wide association studies (GWAS) has been assessed thanks to PIC and LD values. The next aim is to investigate genomic structural variation in cattle using dense SNP information in more than 1000 samples of the Italian and Swiss Brown Swiss breed genotyped on HD Bovine BeadChips. Today there is still no CNV map available across Brown Swiss populations belonging to different countries. This study therefore expands the catalogue of CNVRs in the bovine genome, delivers an international based high-resolution map of CNVRs specific to Brown Swiss dairy cattle and will lastly provide information for GEBV estimation with CNVs

Social and medical need for whole genome high resolution NIPT

Background: Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy. To anticipate future trends in prenatal screening and diagnosis, we evaluated the number of invasive tests in our center and the number of aberrant cases diagnosed in the last decade. Methods: We retrospectively analyzed fetal chromosomal aberrations diagnosed in 2009–2018 in 8,608 pregnancies without ultrasound anomalies. Results: The introduction of NIPT as the first-tier test led to a substantial decrease in the number of invasive tests and a substantially increased diagnostic yield of aneuploidies in the first trimester. However, we have also noted a decreased detection of submicroscopic aberrations, since the number of invasive tests substantially decreased. We have observed that pregnant women were interested in broader scope of prenatal screening and diagnosis than detection of common trisomies. Conclusion: Since the frequency of syndromic disorders caused by microdeletions/ microduplications is substantial and current routine NIPT and ultrasound investigations are not able to detect them, we suggest that a noninvasive test with resolution comparable to microarrays should be developed, which will also meet patient's needs

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Objective: Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. Method: Diagnostic testing with genomic SNP microarray was performed in three cases with NIPT showing a duplication on 4q (case 1), a terminal deletion of 13q (case 2), and a terminal deletion of 15q (case 3). Placental studies involved SNP array analysis of cytotrophoblast and mesenchymal core of chorionic villi of four placental quadrants. Clinical follow-up was performed as well. Results: Amniotic fluid revealed a different structural chromosome aberration than predicted by NIPT: a terminal 2q deletion (case 1), a segmental uniparental isodisomy of 13q (case 2), and a terminal duplication of 15q and of 13q (case 3). Placental studies revealed the aberration detected with NIPT in the cytotrophoblast, whereas the fetal karyotype was confirmed in the placental mesenchymal core. Conclusion: Our study shows that targeted cytogenetic investigations for confirmation of NIPT showing a microscopically visible structural chromosome aberration should be avoided, since another aberration, even a submicroscopic one or one involving another chromosome, may be present in the fetus

Clinical experience of unexpected findings in prenatal array testing

Aim: The aim of this study was to evaluate whether unexpected diagnoses (UD) made by prenatal array testing contribute to pregnancy management. Patients & methods: In 2010-2015 in 19/4043 (0.5%) pregnancies an UD was made. The clinical usefulness of UDs was assessed based on the couple's responses during post-test counseling and their decisions. Results: In 16/19 cases, the UD was helpful either for the couples in making a decision about the course of their pregnancy, for perinatal management or family genetic counseling. Conclusion: The majority of the pregnant couples found the UDs relevant for pregnancy management and genetic counseling. This adds another motive for offering whole genome array during pregnancy in patients who wish broad testing of their fetus