Sex Chromatin Anomaly in Chinese Females: Psychiatric Characteristics of XXX

1974 ◽  
Vol 124 (580) ◽  
pp. 299-305 ◽  
Author(s):  
Ming T. Tsuang
Keyword(s):  
General Population ◽  
Oral Mucosa ◽  
Sex Chromosomes ◽  
Peripheral Blood ◽  
Sex Chromosome ◽  
Present Knowledge ◽  
Population Surveys ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromatin ◽  
Psychiatric Population

The development of techniques for studying sex chromatin from oral mucosa (Moore and Barr, 1955; Marberger at al., 1955), and chromosomes from peripheral blood (Moorhead et al., 1960), has made it possible to undertake population surveys to identify individuals with abnormal sex chromosomes. The present knowledge of psychiatric effects of the sex chromosome abnormalities has been derived mainly from comparing their frequency in the psychiatric population with that in the general population.

Chromosome Findings in Chronic Psychotic Patients

1968 ◽  
Vol 114 (514) ◽  
pp. 1167-1174 ◽  
Author(s):  
J. M. Anders ◽  
G. Jagiello ◽  
P. E. Polani ◽  
F. Giannelli ◽  
J. L. Hamerton ◽  
...  
Keyword(s):  
General Population ◽  
High Frequency ◽  
Sex Chromosome ◽  
Mental Deficiency ◽  
Testicular Atrophy ◽  
Dementia Praecox ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromatin ◽  
High Incidence ◽  
Schizophrenic Patients

The observation of a higher incidence of sex-chromosome abnormalities amongst patients in mental deficiency and subnormality institutions than in the general population (Maclean et al., 1962; Court Brown et al., 1964) suggested that a sex chromatin survey of a theoretically related chronic psychotic population might be of interest. Mott (1919) observed a high frequency of testicular atrophy in dementia praecox, particularly in patients dying in early adolescence, and Forster (quoted by Mott, 1919) reported on the ovarian findings in similarly affected women. Hemphill et al. (1944) found a high incidence of testicular atrophy in a series of ninety male schizophrenic patients.

Sex-Chromatin and Sex-Chromosome Abnormalities in Male Hypogonadal Mental Patients

1965 ◽  
Vol 111 (476) ◽  
pp. 641-647 ◽  
Author(s):  
Johannes Nielsen ◽  
Margit Fischer
Keyword(s):  
Mental Illness ◽  
Sex Chromosomes ◽  
Mental Hospital ◽  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Preliminary Step ◽  
Mental Patients ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromatin

The present study is part of a sex-chromatin survey in a mental hospital. It has been made as a preliminary step in finding the prevalence and incidence of sex-chromosome abnormalities among patients with mental illness; and it also has the purpose of studying the psychopathological and genetic aspects of sex-chromosome abnormalities. The study comprises all clinically hypogonadal patients referred by the psychiatrists at this hospital to the cytogenic laboratory during a period of approximately 1 month. In a survey of this kind we can expect to find patients with certain abnormalities of the sex chromosomes.

Codling moth cytogenetics: karyotype, chromosomal location of rDNA, and molecular differentiation of sex chromosomes

Genome ◽  
2005 ◽  
Vol 48 (6) ◽  
pp. 1083-1092 ◽  
Author(s):  
Iva Fuková ◽  
Petr Nguyen ◽  
František Marec
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Codling Moth ◽  
Dna Probe ◽  
Rrna Genes ◽  
Comparative Genomic ◽  
W Chromosome ◽  
Genomic Hybridization ◽  
Molecular Differentiation ◽  
Sex Chromatin

We performed a detailed karyotype analysis in the codling moth, Cydia pomonella (L.) (Lepidoptera: Tortricidae), the key pest of pome fruit in the temperate regions of the world. The codling moth karyotype consisted of 2n = 56 chromosomes of a holokinetic type. The chromosomes were classified into 5 groups according to their sizes: extra large (3 pairs), large (3 pairs), medium (15 pairs), small (5 pairs), and dot-like (2 pairs). In pachytene nuclei of both sexes, a curious NOR (nucleolar organizer region) bivalent was observed. It carried 2 nucleoli, each associated with one end of the bivalent. FISH with an 18S ribosomal DNA probe confirmed the presence of 2 clusters of rRNA genes at the opposite ends of the bivalent. In accordance with this finding, 2 homologous NOR chromosomes were identified in mitotic metaphase, each showing hybridization signals at both ends. In highly polyploid somatic nuclei, females showed a large heterochromatin body, the so-called sex chromatin or W chromatin. The heterochromatin body was absent in male nuclei, indicating a WZ/ZZ (female/male) sex chromosome system. In keeping with the sex chromatin status, pachytene oocytes showed a sex chromosome bivalent (WZ) that was easily discernible by its heterochromatic W thread. To study molecular differentiation of the sex chromosomes, we employed genomic in situ hybridization (GISH) and comparative genomic hybridization (CGH). GISH detected the W chromosome by strong binding of the Cy3-labelled, female-derived DNA probe. With CGH, both the Cy3-labelled female-derived probe and Fluor-X labelled male-derived probe evenly bound to the W chromosome. This suggested that the W chromosome is predominantly composed of repetitive DNA sequences occurring scattered in other chromosomes but accumulated in the W chromosome. The demonstrated ways of W chromosome identification will facilitate the development of genetic sexing strains desirable for pest control using the sterile insect technique.Key words: CGH, codling moth, FISH, GISH, genomic hybridization, heterochromatin, holokinetic chromosomes, karyotype, NOR, rDNA, SIT, sex chromosomes.

Unusual sex chromosome inheritance in mammals

1970 ◽  
Vol 259 (828) ◽  
pp. 15-36 ◽  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
General Pattern ◽  
Male Meiosis ◽  
Present Knowledge ◽  
Microtus Arvalis ◽  
Present Contribution ◽  
Original Size ◽  
Heterogametic Sex

The male has proven to be the heterogametic sex in all mammals studied so far. As is well known, the males usually have the sex chromosomes XY and the females XX. In recent years, however, many exceptions from this general pattern have been discovered. With our present knowledge, the different sex chromosome mechanisms in mammals may be divided into five main groups, and the first of them into subgroups, as follows: (i) Species with XX/XY sex chromosomes: (a) X of original size (see below), Y small; (b) X large, Y small; (c) X large, Y large: (i) end-to-end association of X and Y at male meiosis, (ii) chiasma between X and Y at male meiosis. (ii) Species with XX/XY 1 Y 2 sex chromosomes. (iii) Species with X 1 X 1 X 2 X 2 /X 1 X 2 Y sex chromosomes. (iv) Species with complicated or unknown mechanisms for sex determination. (v) Species with mosaicism of the sex chromosomes, but apparently with an XX/XY mechanism for sex determination. The present contribution will mainly deal with unusual sex chromosome inheritance, that is the groups (ii), (iii) and (iv) above, but the other two groups will also be briefly discussed and examples will be given. Recently Raicu, Kirillova & Hamar (1969) described a new sex chromosome mechanism ( X 1 X 1 X 2 X 2 /X 1 X 2 Y 1 Y 2 ) in the vole Microtus arvalis , but this observation was not confirmed by Schmid (1969), who found an ordinary XX/XY mechanism with both X and Y readily identifiable and of ‘normal’ size, the X comprising 5.6% of ( n A + X) and Y being the smallest chromosome of the complement. Late DNA replication was demonstrated in the allocyclic X and in the Y. Also Wolf (1969) found normal sex chromosomes in this species with no multivalents at male meiosis.

Sex Chromosome Abnormalities, Homosexuality and Psychological Treatment

1974 ◽  
Vol 124 (580) ◽  
pp. 293-295 ◽  
Author(s):  
A. Orwin ◽  
Sheelah R. N. James ◽  
R. Keith Turner
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormality ◽  
Psychological Treatment ◽  
Normal Male ◽  
Female Type ◽  
Homosexual Orientation ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromatin ◽  
Male Patients ◽  
Male Homosexuals

The theory that some male homosexuals might have female chromosomal constitution (Lang, 1940) became untenable when techniques for studying sex chromosomes were developed. Amongst others the work of Pare (1956) and Raboch and Nedoma (1958) showed that male homosexuals had normal male chromosomes. The latter authors in the same study also reported on 36 male patients with a female type of sex chromatin (i.e. chromatin positive) and could not detect any homosexual orientation: 32 were definitely heterosexual and the remaining 4 were considered ‘infantile’, They assumed that the finding of a chromatin-positive homosexual would be coincidental and that there was no causal relationship between this sex chromosome abnormality and homosexuality. Money and Pollitt (1964) searched for a genotypical abnormality in a related psychosexual disorder, namely transsexualism, but although they collected six cases in the literature where Klinefelter's syndrome and transsexualism occurred together, the correlation was not statistically significant. In fact, it would now appear to be established that there is no specific correlation between sex chromosome abnormality and psychosexual disorders (Slater and Cowie, 1971).

Sex chromosome pairing and sex chromatin bodies in W–Z translocation strains of Ephestia kuehniella (Lepidoptera)

Genome ◽  
1994 ◽  
Vol 37 (3) ◽  
pp. 426-435 ◽  
Author(s):  
František Marec ◽  
Walther Traut
Keyword(s):  
Chromosome Pairing ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Ephestia Kuehniella ◽  
Z Chromosome ◽  
W Chromosome ◽  
Wild Type ◽  
Electron Microscopic ◽  
Sex Chromatin ◽  
Mediterranean Flour Moth

Structure and pairing behavior of sex chromosomes in females of four T(W;Z) lines of the Mediterranean flour moth, Ephestia kuehniella, were investigated using light and electron microscopic techniques and compared with the wild type. In light microscopic preparations of pachytene oocytes of wild-type females, the WZ bivalent stands out by its heterochromatic W chromosome strand. In T(W;Z) females, the part of the Z chromosome that was translated onto the W chromosome was demonstrated as a distal segment of the neo-W chromosome, displaying a characteristic non-W chromosomal chromomere–interchromomere pattern. This segment is homologously paired with the corresponding part of a complete Z chromosome. In contrast with the single ball of heterochromatic W chromatin in highly polyploid somatic nuclei of wild-type females, the translocation causes the formation of deformed or fragmented W chromatin bodies, probably owing to opposing tendencies of the Z and W chromosomal parts of the neo-W. In electron microscopic preparations of microspread nuclei, sex chromosome bivalents were identified by the remnants of electron-dense heterochromatin tangles decorating the W chromosome axis, by the different lengths of the Z and W chromosome axes, and by incomplete pairing. No heterochromatin tangles were attached to the translocated segment of the Z chromosome at one end of the neo-W chromosome. Because of the homologous pairing between the translocation and the structurally normal Z chromosome, pairing affinity of sex chromosomes in T(W;Z) females is significantly improved. Specific differences observed among T(W;Z)1–4 translocations are probably due to the different lengths of the translocated segments.Key words: Mediterranean flour moth, sex chromosomes, sex chromatin, translocations, synaptonemal complexes, microspreading.

scholarly journals Degenerated, Undifferentiated, Rearranged, Lost: High Variability of Sex Chromosomes in Geometridae (Lepidoptera) Identified by Sex Chromatin

Cells ◽  
2021 ◽  
Vol 10 (9) ◽  
pp. 2230
Author(s):  
Martina Hejníčková ◽  
Martina Dalíková ◽  
Pavel Potocký ◽  
Toomas Tammaru ◽  
Marharyta Trehubenko ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Intraspecific Variability ◽  
Comparative Genomic ◽  
W Chromosome ◽  
Sex Chromatin ◽  
Poor Differentiation ◽  
Excellent Tool ◽  
Respective Species

Sex chromatin is a conspicuous body that occurs in polyploid nuclei of most lepidopteran females and consists of numerous copies of the W sex chromosome. It is also a cytogenetic tool used to rapidly assess the W chromosome presence in Lepidoptera. However, certain chromosomal features could disrupt the formation of sex chromatin and lead to the false conclusion that the W chromosome is absent in the respective species. Here we tested the sex chromatin presence in 50 species of Geometridae. In eight selected species with either missing, atypical, or normal sex chromatin patterns, we performed a detailed karyotype analysis by means of comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). The results showed a high diversity of W chromosomes and clarified the reasons for atypical sex chromatin, including the absence or poor differentiation of W, rearrangements leading to the neo-W emergence, possible association with the nucleolus, and the existence of multiple W chromosomes. In two species, we detected intraspecific variability in the sex chromatin status and sex chromosome constitution. We show that the sex chromatin is not a sufficient marker of the W chromosome presence, but it may be an excellent tool to pinpoint species with atypical sex chromosomes.

scholarly journals Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2

2020 ◽  
Vol 3 (3) ◽  
pp. e201900564 ◽  
Author(s):  
François McNicoll ◽  
Anne Kühnel ◽  
Uddipta Biswas ◽  
Kai Hempel ◽  
Gabriela Whelan ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Sister Chromatid ◽  
Sex Chromosome ◽  
Sister Chromatid Cohesion ◽  
Mouse Strains ◽  
Meiotic Chromosomes ◽  
Chromosome Synapsis ◽  
Chromatid Cohesion ◽  
Sex Chromatin ◽  
Cohesin Subunit

In mitotic cells, establishment of sister chromatid cohesion requires acetylation of the cohesin subunit SMC3 (acSMC3) by ESCO1 and/or ESCO2. Meiotic cohesin plays additional but poorly understood roles in the formation of chromosome axial elements (AEs) and synaptonemal complexes. Here, we show that levels of ESCO2, acSMC3, and the pro-cohesion factor sororin increase on meiotic chromosomes as homologs synapse. These proteins are less abundant on the largely unsynapsed sex chromosomes, whose sister chromatid cohesion appears weaker throughout the meiotic prophase. Using three distinct conditional Esco2 knockout mouse strains, we demonstrate that ESCO2 is essential for male gametogenesis. Partial depletion of ESCO2 in prophase I spermatocytes delays chromosome synapsis and further weakens cohesion along sex chromosomes, which show extensive separation of AEs into single chromatids. Unsynapsed regions of autosomes are associated with the sex chromatin and also display split AEs. This study provides the first evidence for a specific role of ESCO2 in mammalian meiosis, identifies a particular ESCO2 dependence of sex chromosome cohesion and suggests support of autosomal synapsis by acSMC3-stabilized cohesion.

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