Identification of sex chromosomes using genomic and cytogenetic methods in a range-expanding spider, Argiope bruennichi (Araneae: Araneidae)

Differences between sexes in growth, ecology and behavior strongly shape species biology. In some animal groups, such as spiders, it is difficult or impossible to identify the sex of juveniles. This information would be useful for field surveys, behavioral experiments, and ecological studies on e.g. sex ratios and dispersal. In species with sex chromosomes, sex can be determined based on the specific sex chromosome complement. Additionally, information on the sequence of sex chromosomes provides the basis for studying sex chromosome evolution. We combined cytogenetic and genomic data to identify the sex chromosomes in the sexually dimorphic spider Argiope bruennichi, and designed RT-qPCR sex markers. We found that genome size and GC content of this spider falls into the range reported for the majority of araneids. The male karyotype is formed by 24 acrocentric chromosomes with an X1X20 sex chromosome system, with little similarity between X chromosomes, suggesting origin of these chromosomes by X chromosome fission or early duplication of an X chromosome and subsequent independent differentiation of the copies. Our data suggest similarly sized X chromosomes in A. bruennichi. They are smaller chromosomes of the complement. Our findings open the door to new directions in spider evolutionary and ecological research.

Penile agenesis (afallia) in pueros

Introduction. Penile agenesis (aphallia) is an extremely rare congenital defect characterized by the complete absence of the penis in a child with a male karyotype 46XY.Material. The analysis of the literature on keywords in the Pubmed and Medline databases was carried out.Results. The incidence of aphallia is estimated 1 out of 10-40 million newborn boys. Aphallia, in spite of its rarity, is a congenital defect which is thoroughly described in the medical literature. The combination of agenesis of the penis with other congenital anomalies often leads to death in such children. Currently, it is believed that these patients should be left with their genetic male sex, therefore, there is a difficult dilemma of choosing the optimal method and age for creating the neophallus and neourethra.Conclusions. The rarity of the aphallia determines the lack of publications covering the long-term results of phalloplasty in both children and adults.

Dysgerminoma presenting at fifty, consequence to undiagnosed Swyer syndrome

Swyer syndrome or XY complete gonadal dysgenesis (CGD) is a rare disorder of sex development (DSD) characterized by presence of dysgenetic gonads in a phenotypically female patient with a male karyotype. Usually Swyer syndrome is diagnosed following appropriate evaluation for amenorrhea in adolescence and prophylactic gonadectomy is done as these patients have high risk of developing malignancy in their dysgenetic gonads. Here we presented patient who presented later in life with ovarian malignancy which turned out to be a consequence of undiagnosed Swyer syndrome. Her case exemplifies that fact that improper evaluation of primary amenorrhea in adolescence and omission to do prophylactic bilateral gonadectomy led to her presenting with malignancy at this advanced age. Therefore, be aware to not let Swyer syndrome go undiagnosed and mismanaged.

Prophylactic gonadectomy in 46 XY females; why, where and when?

Objectives We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy. Case presentation Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy. Conclusion Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.

A Brother and Sister with the Same Karyotype: Case Report of Two Siblings with Partial 3p Duplication and Partial 9p Deletion and Sex Reversal

Duplications of 3p and deletions of 9p occurring separately are well described; however, there are few reports of individuals with unbalanced translocations resulting in both of these chromosomal abnormalities. We report two siblings with the same unbalanced male karyotype and sex reversal.

An unusual case of Chronic Lymphocytic Leukemia with trisomy 12 presenting with prolymphocytic transformation and new translocation 8;21.

Patient with a long history of CLL and known trisomy 12 presented with rapidly rising lymphocytosis, bulky adenopathy, and splenomegaly. Peripheral blood and bone marrow exam showed preponderance of prolymphocytes. Cytogenetic analysis showed an abnormal male karyotype with trisomy 12 and a new t(8;21) translocation in the same 6 metaphases.

Case about Swyer syndrome (complete, or “pure” gonadal dysgenesis)

46XY - Swyer syndrome (complete, or “pure” gonadal dysgenesis) can be briefly described as a female phenotype in the male genotype. The disease is named for the British endocrinologist Gerald Swyer, who described it in 1955. The full form of dysgenesis is nonsyndromic (not accompanied by extragenital malformations), excludes the duality of sexual development (the presence of male primary sexual characteristics along with female ones), psychological development occurs according to the female type. Congenital pathology occurs in one case in 180,000 individuals with a male karyotype and is recorded more often than other forms of XY-dysgenesis of gonads. Based on these results of the one female, the diagnosis of Swiera syndrome (complete genital dysgenesis: impaired sexual development) was suspected.

Case about Swyer syndrome (complete, or “pure” gonadal dysgenesis)

46XY - Swyer syndrome (complete, or “pure” gonadal dysgenesis) can be briefly described as a female phenotype in the male genotype. The disease is named for the British endocrinologist Gerald Swyer, who described it in 1955. The full form of dysgenesis is nonsyndromic (not accompanied by extragenital malformations), excludes the duality of sexual development (the presence of male primary sexual characteristics along with female ones), psychological development occurs according to the female type. Congenital pathology occurs in one case in 180,000 individuals with a male karyotype and is recorded more often than other forms of XY-dysgenesis of gonads. Based on these results of the one female, the diagnosis of Swiera syndrome (complete genital dysgenesis: impaired sexual development) was suspected.

Hypodiploidy in patients with acute lymphoblastic leukemia

Background. Acute lymphoblastic leukemia (ALL) is characterized by different clinical course and different sensitivity to therapy. Taking into consideration their significant prevalence an intensive search for new prognostic criteria is conducted that may determine individual prognosis and choose the most appropriate treatment approach for patients with ALL, who often require transfusion therapy and replacement therapy with blood components. Objective. To detect the frequency, diagnostic and prognostic significance of hypodiploidy in patients with ALL. Materials and methods. Standard cytogenetic investigation of bone marrow and/or peripheral bloodcells was performed according to the standard techniques from 57 adult patients with ALL. Results and discussion. Chromosomal aberrations of various kinds were found in 37 (65 %) patients with ALL. Among them presence of one karyotype abnormality was established in 9 (24 %) patients, two abnormalities – in 10 (27 %) and multiple structural and/or numerical changes (≥3) – in 18 (49 %). Samples from 20 (35 %) patients showed a normal female or male karyotype without cytogenetically visible changes. The most common abnormalities in ALL were: trisomy 8, rearrangements of 7q, 17p and 11q23, translocations t(4;11)(q21;q23), t(9;22)(q34;q11), marker chromosomes, acentric structures, hypodiploidy, hyperdiploidy, complex karyotype (≥3 changes) etc. Hypodiploidy was found in 2 (4 %) patients with ALL. One patient, except for abnormal ones, had normal metaphases in him karyotype. Of two patients with hypodiploidy, one had only numerical abnormalities, whereas other one had also structural cytogenetic aberrations, except the numerical changes, namely t(1;6)(q32;q27), add(12)(q24), del(17)(p11), r(17)(p13q25). Hypodiploidy is an unfavorable marker in ALL and a near haploidy is an extremely unfavorable factor. Conclusions. Cytogenetic abnormalities of various kinds were found in 37 (65 %) patients with ALL. The frequency of hypodiploidy was 4 %. ALL patients with hypodiploidy were classified into cytogenetic categories of ALL with a poor risk prognosis. Thus, cytogenetic investigations should be included in the standard examination of patients with ALL for diagnosis, prognosis and selection the optimal treatment strategy.

Deviation of paradigmatic mutations found in shprintzen-goldberg syndrome

Shprintzen-Goldberg (S-G) Syndrome known as rare congenital connective tissue disorder where craniosynostosis and marfanoid habitus found to be the usual presentation. Craniofacial dysmorphism with multi-organ involvement documented to be amongst prominent features of this syndrome. Case characteristics is five-month-old male infant with craniosynostosis, and motor developmental delay was evaluated for congenital connective tissue disorder. Dysmorphic craniofacial features like dolichocephaly, triangular forehead, ocular hypertelorism, micrognathia and retrognathia were noticed besides congenital umbilical hernia, empty scrotal sac, clinodactyly with long slender fingers, hyper-mobile joints, hypotonia. Subsequent investigations revealed normal male karyotype (46, XY) while genetic analysis depicted missense mutations in six different genes. Conventionally, mutation in SKI gene reported for its’ associated with S-G syndrome where dysregulation of TGF-β signaling was discussed as the primary reason. In the present case discussed here, it was found to have polygenic mutational association where few novel genetic mutations were seen.