A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy

Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue. The type of inheritance of this disease is autosomal recessive. De novo variants with this type of inheritance are rare, and it is quite possible that the de novo variant may hide a mosaic form in the parent of an affected child. We present a birth family with two affected children who inherited a previously undescribed pathogenic variant c.1755del from their mother and a previously described pathogenic variant c.9253C > T in the LAMA2 gene from their mosaic father. LAMA2 gene mutation analysis was performed by mass parallel sequencing and direct sequencing of genomic DNAs.

Shereshevsky-Turner syndrome and pregnancy

Turner syndrome (TS) in most cases leads to infertility. However, the literature describes cases of physiological pregnancy in the mosaic form of TS. Thanks to accessory reproductive technologies, the number of women who have become mothers is increasing. But effective treatment of infertility is impossible without hormone replacement therapy. A woman with TS during pregnancy and childbirth should be under supervision because of the increased risk for obstetric and somatic pathology.

The kariotype variability in children with Down syndrome from the Odesa region

The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was in 3.7 %, and the mosaic form was in 2.4 %. Similar results were revealed in the analysis of populations belonging to different ethnic and racial groups. Complete trisomy 21 was accompanied by chromosome rearrangements of other chromosomes or additional modifications of chromosome 21. Changes in the heterochromatin in chromosome 9 were more frequently observed. In total, 5.5 % of examined karyotypes were found with additional heterochromatin in both arms of chromosome 1 and in the long arm of chromosome 21. An increase in the size of satellites in chromosomes 14, 15 and more often 21, as well as the appearance of additional satellites in chromosome 2 represented 3.6 % of the total examined karyotypes. A deletion on chromosome 6 involved in translocation with chromosome 13 also was found. Translocation forms included Robertsonian translocations involving chromosomes 21 and 21, 14 and 21, as well as translocations involving chromosomes 21 and 21, 21 and 22. Patients with a mosaic form of the disease had two cell lines: with a normal karyotype 3 (15–67 % of the studied cells) and with complete trisomy 21 without additional chromosomal abnormalities (33–85 % of the studied cells). Conclusions. Among patients with cytogenetically confirmed diagnosis of Down syndrome, the ratio of the main variants was similar to many populations studied. At the same time, additional changes in the karyotype were identified which can either be a variant of the norm or aggravate the course of the disease. This requires further studies of the disease course in such patients.

Specifics of the structure of the cycle and the musical form in the Concerto for Persian Ney and Orchestra «Toward That Endless Plain» by Reza Vali

The article considers the peculiarities of the structure of the cycle and the form of the Concerto for the Persian Ney with Orchestra «Toward That Endless Plain» by the modern Iranian-American composer of the XX–XXI centuries Reza Vali (b. 1952). It was found that the unusual structure and musical form of this Concert are manifested in the combination between traditional Western European principles of cycle composition with the principles of musical form each part that is characteristic of classical Iranian music. The cycle of the Concerto is three-part with additional sections. This model of a solo concerto has developed in the European musical tradition. However, due to the author’s program the structure of the cycle, in general, is extremely specific (Tavakkol, 2019: 271). It was found that the specifics of the structure of the cycle is the introduction of two additional sections, marked as “Prelude” (set out before Part I) and “Interlude” (placed between Parts II and III). It is established that each of the three parts and additional sections are set out in a peculiar form inherent in Iranian classical music: Parts I and III are composed in mosaic form, Part II is written in the form of nobats; “Prelude” and “Interlude” are created in Ternary form. It is revealed that the arched principle (the principle of symmetry) in the construction of the cycle is found between “Prelude” and “Interlude”, as well as between I and III parts. The alternation of tempo characteristics of the parts is revealed in the general composition of the cycle. The I and III parts have a slow tempo and the II part has a fast. (this kind of contrast between parts is not typical for the genre of a solo concert of Western European music). Two principles in the organization of the composition cycle and the form of individual parts are highlighted. It is proved that R. Vali’s choice of a specific composition of the cycle, the form of parts and additional sections, as well as the use of tempo of each part, is due to the concert program, which is a kind of interpretation of the meaning contained in the poem by S. Sepehri. The music of the work is closely connected with the program. All parts of the Concerto have titles in Persian and English, which are based on the postulates of mystical philosophy and Sufism. Prelude and Interlude, which are associated with images of the material world – aggression and war. In comparison with the saturated, solid sound of the Prelude and Interlude, the delicate sparsity of the three main parts of the cycle are meant to reveal the spiritual life of humanity (Tavakkol, 2020: 113–117).

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome

Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.

Perceiving the Mosaic: Form in the Mashups of DJ Earworm

The formal analysis of mashups is generally overlooked because their structures are assumed to be derived from one or more of their component tracks. This article explores the generation of original formal structures in one of the most well-known and complex mashup artists, DJ Earworm. We show that the form of his mashups can neither be derived from a singular work nor be analyzed by their thematic or harmonic construction. Instead, verse–chorus forms are revealed by correlating mashup sections to the formal origins of their borrowed material, which is based on the composer’s writings and interviews, a history of formal correlation in the mashup genre, and multiple analyses.

Spermatological characteristics of mosaic and non-mosaic forms of Klinefelter syndrome

The study objective is to compare of ejaculate parameters in mosaic, non-mosaic Klinefelter syndrome (KS).Materials and methods. Eighty-five patients with KS were examined. The group 1 included 75 patients between the ages of 17 and 39 with non-mosaic KS (47,XXY), the group 2 included 10 males between the ages of 22 and 57 years with mosaic KS: 47,XXY/46,XY (n = 9), 48,XXY,der(X)/47,XXY/46,XY (n = 1).Results. KS patients semen volume was 1.9 ± 1.3 (0.1–5.5) ml in non-mosaic KS patients (47,XXY) and 1.5 ± 1.2 (0.05–4.00) ml in patients with a mosaic form of a KS, respectively, рН semen – 7.8 ± 0.5 (6.5–9.0) and 7.8 ± 0.2 (7.5–8.1), sperm count – 0.27 ± 1.42 (0.00–12.50) and 0.12 ± 0.28 (0.00–0.90) million/ml, respectively. The viscosity was increased (>20 mm) at 41 % non-mosaic KS (group 1) and 22 % of mosaic KS (group 2) patients. The ejaculate sediment was investigated by quantitative karyological analysis of immature germ cells. The germ cells in 42 % samples of the ejaculate of the patients with a classical form of a KS and in 20 % samples of the ejaculate of the patients with a mosaic form was found. That indicates a partial preservation of spermatogenesis.Conclusion. The degree of spermatogenesis depletion in KS patients widely varied, ejaculate and germ cell parameters in the ejaculate sediment weren’t significantly different. Presence of few sperms (cryptozoospermia) and immature cells in the ejaculate sediment point to partial preservation of spermatogenesis.