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Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene. Case report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week. Fetal karyotyping revealed de novo translocation 46,XY,t(7;11)(p15.5;q21)dn. Chromosomal microarray showed presence of three microdeletions on chromosome 7 (7p21.1p15.3 including TWIST1, 7p12.1p11.2 and 7q21.11), and one on chromosome 5p12p11. Conclusion: Use of advanced molecular diagnostic techniques in combination with cytogenetic methods allows for precise characterization of CCRs and detection of molecular mechanisms of their origin. Phenomenon of chromothripsis can be causative of rare genetic syndromes such as SCS.

Introduction: Small supernumerary marker chromosomes (sSMCs) are infrequent findings in prenatal diagnostics, however they pose a great challenge for prenatal genetic counseling.Methods: We report prenatal 12 sSMC cases detected in a single center during 10 years period, their molecular characterization by fluorescence in situ hybridization (FISH) or chromosomal microarray (CMA). Those cases were found among 9620 prenatal diagnostic analyzes by GTG-banding technique. In selected cases, additional UPD testing was also done.Results: Incidence of sSMCs in our study was 0.12%. sSMC characterization was done by FISH in 9 cases, in the remainder of three CMA was employed. The most common sSMC shape was centric minute, followed by inverted duplication and one case with ring conformation. sSMCs originating from acrocentric chromosomes (chromosomes 14, 21 and 22), sex chromosomes (X, Y) and non-acrocentric autosomal chromosomes (chromosome 4 and 18) were confirmed in 3 cases each; no result could be obtained in 3 further cases.Discussion: No anomalies were detected by prenatal ultrasound in any of the cases. In 58% of the cases, outcome was reported as normal at birth, while anomalies at birth were described in one case. Only two patients opted for pregnancy termination. Preterm labor occurred in case of twin pregnancy resulting in stillbirth and early neonatal death of twins. Overall, our study highlights the importance of a sSMC characterization by molecular cytogenomic methods in order to make appropriate genotype-phenotype correlations and ensure adequate genetic counseling.

IntroductionAutism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and/or stereotyped behaviors. Coffin–Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. In this study, we present a detailed description of autistic traits in a boy diagnosed with CSS and further discuss their genetic backgrounds.Case descriptionAn 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin–Siris syndrome after genetic testing. Genetic testing revealed a heterozygous de novo pathogenic variant (class 5) c.1638_1647del in the ARID1B gene that is causative of Coffin–Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype.ConclusionBoth autism and ARID1B-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.

Isolated male epispadias is one of the most severe congenital genital anomalies that require surgical correction. The goals of the surgery are to reach good aesthetic and functional outcomes. The aim of this retrospective study was to analyze the long-term outcomes of surgical reconstruction of male epispadias. A total of 31 patients with a mean age of 17 years, who underwent surgical repair of isolated male epispadias from January 2000 to January 2015, were involved. The main outcome measures were defined as: aesthetic outcome, continence, postoperative complications, sexual function, and quality of life. The follow-up period ranged from 8 to 23 years, with an average of 14.4 years. Each patients underwent an average of 2.2 surgical procedures in this period. The most common postoperative complications were urethral fistula and residual curvature, in 22.6% and 12.9%, respectively. Satisfactory aesthetic outcome was reported in 71.4% of cases. The repair of male epispadias usually includes more than two procedures with satisfactory aesthetic outcome. Unsolved urinary incontinence remains a significant issue and has a high impact on the quality of life. Follow-up should be extended even after complete sexual maturity. Comprehensive long-term evaluation is necessary for proper treatment of isolated epispadias.