Unique mosaic X/Y translocation/insertion in infant 45,X male

Черных, В. Б.; Vyatkina, Svetlana; Vg, Antonenko; Shilova, N.V.; Zolotukhina, T. V.; Курило, Л. Ф.; Чухрова, А. Л.; Polyakov, A. V.

doi:10.1002/ajmg.a.32578

Cited by 7 publications

(5 citation statements)

References 6 publications

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“…Patients with type “other” were more likely to have gonadal abnormalities (14/21). Almost all patients had at least one complete X-chromosome segment (details shown in Table 4 ) [ 5 – 8 , 27 – 40 ].…”

Section: Resultsmentioning

confidence: 99%

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

et al. 2023

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Background X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. Results This study comprehensively analyzed the clinical and genetic characteristics of three new patients with X/Y translocations. Furthermore, cases with X/Y translocations reported in the literature and studies exploring the clinical genetic effects in patients with X/Y translocations were reviewed. All three female patients were carriers of X/Y translocations with different phenotypes. The karyotype for patient 1 was 46,X,der(X)t(X;Y)(p22.33;q12)mat, patient 2 was 46,X,der(X)t(X;Y)(q21.2;q11.2)dn, and patient 3 was 46,X,der(X)t(X;Y)(q28;q11.223)t(Y;Y)(q12;q11.223)mat. C-banding analysis of all three patients revealed a large heterochromatin region in the terminal region of the X chromosome. All patients underwent chromosomal microarray analysis, which revealed the precise copy number loss or gain. Data on 128 patients with X/Y translocations were retrieved from 81 studies; the phenotype of these patients was related to the breakpoint of the chromosome, size of the deleted region, and their sex. We reclassified the X/Y translocations into new types based on the breakpoints of the X and Y chromosomes. Conclusion X/Y translocations have substantial phenotypic diversity, and the genetic classification standards are not unified. With the development of molecular cytogenetics, it is necessary to combine multiple genetic methods to obtain an accurate and reasonable classification. Thus, clarifying their genetic causes and effects promptly will help in genetic counseling, prenatal diagnosis, preimplantation genetic testing, and improvement in clinical treatment strategies.

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Section: Resultsmentioning

confidence: 99%

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

et al. 2023

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“…У некоторых пациентов с ХХ-инверсией пола при СЦИ диагностируют мозаичный ее вариант, например 45,X/46,XX, 45,X/46,XX/47,XXX или 46,XX/47,XXX [13]. Также к 46,ХХ-тестикулярной форме НФП можно отнести кариотип пациентов мужского пола с кариотипом 45,Х и 47,ХХХ [26,27]. В первом случае все пациенты являются SRY-позитивными вследствие наличия Y-аутосомной или X-Y-транслокации (крайне редко), во втором -X-Y-транслокации в сочетании с Х-Х-нерасхождением.…”

Section: Discussionunclassified

Genetic and semen examination of patients with 46,XX testicular disorder of sex development

Shtaut

Сорокина

Курило

et al. 2023

Androl. genit. hir.

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Background. 46,XX male syndrome (XX sex reversal) or 46,ХХ testicular disorder of sex development (DSD) – a genetic disorder that characterized by primary hypogonadism and male infertility because of severe spermatogenesis defects. 46,XX testicular DSD is resulted from unbalanced microstructural sex chromosome abnormalities, mostly X-Y translocations involving SRY gene. Genetic heterogeneity and phenotypic variability, particularly the effect of the genotype on semen parameters in XX sex reversed patients are not sufficiently studied.Aim. Genetic and semen examination in patients with 46,ХХ testicular DSD.Materials and methods. 32 patients with 46,XX testicular DSD and 2 men with mosaicism 46,XX/46,XY were examined. Cytogenetics, molecular genetics and spermatology examination (standard semen analysis and quantitative karyological analysis of immature germ cells) were performed.Results. The presence of the SRY gene was detected in 23 (82.1 %) of 28 patients who underwent a molecular genetic study, and 5 patientswere SRY-negative. Azoospermia and severe oligozoospermiawere diagnosed in 24 (75 %) and 8 (25 %) patients, respectively. Quantitative karyological analysis of immature germ cells allowed to reveal cryptozoospermia in 3 patients with initially diagnosed azoospermia (according to a standard semen analysis). Severe oligozoospermia and cryptozoospermia were mentioned both in some of SRY-positive and SRY-negative patients.Conclusion. 46,XX testicular DSD is characterized by severe degree of spermatogenesis defects (azoospermia and extremely severe oligozoospermia). Small number of germ cells detected in ejaculate in some patients with 46,XX testicular DSD, including SRY-negative individuals, indicates partial preservation ofspermatogenesisin the absence of Y chromosome genes.

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“…A male phenotype with testicular differences in sex development (DSD) in the presence of a 45,X karyotype is rare. This may result from a Y chromosomal translocation or an insertion to X/autosome ( 1 ). Clinical presentation can be varied depending on the presence of the Y chromosomal locus and the degree of loss of autosome material.…”

Section: Introductionmentioning

confidence: 99%

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity

Suntharesan

Apperley

Senniappan

2022

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. 45,X males can present with short stature and Turner syndrome phenotype due to haploinsufficiency of genes which are normally expressed in both X and Y chromosomes. The presence of the sex-determining region Y (SRY) gene leads to the differentiation of bipotential gonads to testis. Most individuals go through puberty normally, but some may need pubertal induction for delayed puberty. Rarely some can have a pubertal arrest. The risk of gonadoblastoma is minimal in these individuals due to functioning testicular tissue. The azoospermia factor (AZF) region is found on the long arm of the Yq chromosome and is needed for spermatogenesis. In a 45,X male with unbalanced translocation of Y chromosome, spermatogenesis can be affected due to the lack of AZF leading to Sertoli cell-only syndrome. This will have an implication on fertility in adult life. We present a 14-year-old boy with developmental delay, learning difficulties and subtle dysmorphic features who was diagnosed with 45,X,der(2)t(Y:2)(?:p25). Fluorescence in situ hybridisation analysis revealed translocation of SRY (Yp11.3) to the terminal part of the short arm of chromosome 2 resulting in the deletion of most of the Y chromosome (Yp11.2-q12) and part of chromosome 2(2p25.3). This is the first case where SRY translocation to chromosome 2 presents with the above clinical presentation. Learning points 45,X karyotype is rare in male. It may occur due to SRY translocation or an insertion to X/autosome. SRY gene translocation to chromosome 2 has been not reported in the literature. Clinical presentation can be varied due to degree of loss of chromosomal material. Due to loss of AZF region found on the long arm of the Yq, spermatogenesis can be affected. Loss of 2p25 leads to learning difficulty and obesity.

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Unique mosaic X/Y translocation/insertion in infant 45,X male

Abstract: We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY-bearing derivative X chromosome that included Yp and heterochromatic Yq fragments.

Cited by 7 publications

References 6 publications

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

Genetic and semen examination of patients with 46,XX testicular disorder of sex development

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity

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