THE CHROMOSOME COMPLEMENT OF RABBIT BLASTOCYSTS IN RELATION TO THE TIME OF MATING AND OVULATION

1969 ◽  
Vol 11 (2) ◽  
pp. 287-293 ◽  
Author(s):  
Evelyn L. Shaver ◽  
D. H. Carr
Keyword(s):  
Sex Ratio ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Chromosome Abnormalities ◽  
Chromosome Constitution

Six-day blastocysts were recovered from rabbits mated at various intervals from 0 to 10 hours after an ovulation-inducing injection of chronic gonadotrophin. Ten of eighty or 13% of the blastocysts from animals mated between 6 and 9 hours after injection were triploid in chromosome constitution. When karyotyped, seven of the triploids had an XXY and three an XXX sex chromosome complex. The incidence of chromosome abnormalities at delay intervals from 0 to 4 hours was 5%, approximately. No triploids were found at these times. The sex chromosome complex of 6-day blastocysts was XY in 54% and XX in 46% of the blastocysts. No difference in the sex ratio was noted with delayed mating.

ORAL-FACIAL-DIGITAL SYNDROME IN A CHROMOSOMALLY NORMAL MALE

PEDIATRICS ◽  
1967 ◽  
Vol 40 (1) ◽  
pp. 63-68
Author(s):  
Frederick Mandell ◽  
Pearay L. Ogra ◽  
Sidney L. Horowitz ◽  
Kurt Hirschhorn
Keyword(s):  
Clinical Features ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Normal Chromosome ◽  
Male Child ◽  
Chromosome Constitution ◽  
Normal Male

Oral-facial-digital syndrome has been described almost exclusively in females. The few males that have been reported with classical features of the syndrome have had abnormal karyotypes. A 20-month-old, living, male child with characteristic clinical features of oral-facial-digital syndrome is described. This child has a normal chromosome complement of 46 with an XY sex chromosome constitution. It is suggested that the survival of this child represents the extreme of the variability of expressivity in this syndrome.

Q-BANDING OF CHROMOSOMES IN HUMAN SPONTANEOUS ABORTIONS

1978 ◽  
Vol 20 (3) ◽  
pp. 415-425 ◽  
Author(s):  
David H. Carr ◽  
Milan M. Gedeon
Keyword(s):  
Sex Ratio ◽  
Sex Chromosomes ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Ring Chromosome ◽  
Banding Technique ◽  
Spontaneous Abortions ◽  
Chromosome Anomalies ◽  
Chromosome 13

Chromosome studies of 242 spontaneous abortions were carried out by Q-banding technique. The abortuses were selected for study because they were phenotypically abnormal, had not progressed beyond 12 weeks development, or were from women with repeated abortions. Chromosome anomalies were found in 126 (52%) of the abortuses. Of these, 71 (56%) were trisomies. Trisomies were found for all the autosomes except Nos. 1, 3, 5, 11, 17 and 18. Triploidy was the second commonest anomaly in this series, making up 26 (21%) of the total anomalies. About 70% of these had an XXY sex chromosome complement. Only 16 (13%) of the abortuses had X monosomy, a lower frequency than would be expected in an unselected study. Tetraploidy was found in 8 abortuses and the 5 remaining specimens had various anomalies. These included 3 translocations, a trisomy 21,X monosomy and a ring chromosome 13. Except for the greater frequency of XXY than XXX sex chromosomes in the triploids, there was no evidence of a distortion of the sex ratio, either among the trisomic or among the chromosomally normal abortuses.

Psychological Characteristics Associated with XYY Sex-Chromosome Complement in a State Mental Hospital

1967 ◽  
Vol 113 (498) ◽  
pp. 495-498 ◽  
Author(s):  
K. Hope ◽  
A. E. Philip ◽  
J. M. Loughran
Keyword(s):  
State Hospital ◽  
Clinical Features ◽  
Mental Hospital ◽  
Sex Chromosome ◽  
Psychiatric Patients ◽  
Chromosome Complement ◽  
Chromosome Constitution ◽  
Psychological Characteristics ◽  
State Mental Hospital ◽  
State Mental

In a recent survey of males detained in a State hospital for dangerous, violent and criminal psychiatric patients, seven subjects with an XYY sex-chromosome constitution were discovered (Jacobs et al., 1965). Further investigation (Price et al., 1966) yielded two more patients with this abnormality. Psychological testing of these same patients was undertaken in order to detect cognitive or clinical features which distinguish them from other men in the same hospital.

The EEG and Sex Chromosome Abnormalities

1971 ◽  
Vol 119 (549) ◽  
pp. 185-190 ◽  
Author(s):  
G. W. Fenton ◽  
T. G. Tennent ◽  
K. A. Comish ◽  
N. Rattray
Keyword(s):  
Comparative Study ◽  
Sex Chromosome ◽  
Single Case ◽  
Case Reports ◽  
Chromosome Complement ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities ◽  
Xyy Syndrome ◽  
Hospital Patients ◽  
Special Hospital

A number of recent reports have drawn attention to the abnormal EEG findings obtained in subjects with Klinefelter's Syndrome (Dumermuth, 1961; Hambert and S: son Frey, 1964; Hambert, 1964; Nielsen, 1969; Nielsen and Pedersen, 1969; Pasqualini et al., 1957; Prader et al., 1958; Zuppinger et al., 1967). An increased prevalence of epilepsy within this group has also been noted (Hambert, 1964). Much less is known about the electroencephalogram in the XYY syndrome, the available data being limited to single case reports or reports involving only a few subjects (Borgaonkar et al., 1968; Bartlett et al., 1968; Court-Brown et al., 1968; Cowie and Khan, 1968; Forssman, 1967; Forssman and Hambert, 1966; Kessler and Moos, 1970; Leff and Scott, 1968; Mintzer et al., 1968; Nielsen and Pedersen, 1969; Nielsen and Tsuboi, 1969; Nielsen et al., 1966; Pergament et al., 1968; Persson, 1967; Weiner et al., 1968; Welch et al., 1967). This paper describes the initial findings of a comparative study of Special Hospital patients with sex chromosome abnormalities and a group of matched controls of normal chromosome complement from the same institution.

A functional 'sex-reversed’ oocyte in the mouse

1975 ◽  
Vol 190 (1099) ◽  
pp. 187-197 ◽  
Keyword(s):  
Sex Ratio ◽  
Germ Cells ◽  
Sex Chromosome ◽  
Inbred Mouse ◽  
Chromosome Constitution ◽  
Mouse Strains ◽  
Inbred Mouse Strains ◽  
Fertile Female ◽  
Great Excess ◽  
Single Phenotype

Two fertile female chimaeras derived by aggregation of morulae from the inbred mouse strains AKR/J and CBA/H-T6 were found to be of mixed sex chromosome constitution, XX/XY. The XY component of both chimaeras was AKR (albino). The records showed that one of the chimaeras had two litters totalling seven young including an exceptional son with an albino coat. This implied that the maternal gamete had originated from the XY component. Other possible explanations are examined and effectively excluded. The exceptional son was sterile and was later found to have the rare 41, XXY (‘Klinefelter’) karyotype. The possibility of functional reversal of germ cells in mouse chimaeras had hitherto been dismissed on the basis of the apparently undisturbed sex ratio of their progeny and the great excess of single-phenotype progenies in test matings. This evidence is re-examined and shown to be indecisive for female chimaeras.

scholarly journals Clinical Cytogenetics of the Dog: A Review

Animals ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 947
Author(s):  
Izabela Szczerbal ◽  
Marek Switonski
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Chromosome Complement ◽  
Disorders Of Sex Development ◽  
Digital Pcr ◽  
Chromosome Abnormalities ◽  
Molecular Techniques ◽  
Comparative Genome Hybridization ◽  
Reciprocal Translocations

The dog is an important companion animal and has been recognized as a model in biomedical research. Its karyotype is characterized by a high chromosome number (2n = 78) and by the presence of one-arm autosomes, which are mostly small in size. This makes the dog a difficult subject for cytogenetic studies. However, there are some chromosome abnormalities that can be easily identified, such as sex chromosome aneuploidies, XX/XY leukocyte chimerism, and centric fusions (Robertsonian translocations). Fluorescence in situ hybridization (FISH) with the use of whole-chromosome painting or locus-specific probes has improved our ability to identify and characterize chromosomal abnormalities, including reciprocal translocations. The evaluation of sex chromosome complement is an important diagnostic step in dogs with disorders of sex development (DSD). In such cases, FISH can detect the copy number variants (CNVs) associated with the DSD phenotype. Since cancers are frequently diagnosed in dogs, cytogenetic evaluation of tumors has also been undertaken and specific chromosome mutations for some cancers have been reported. However, the study of meiotic, gamete, and embryo chromosomes is not very advanced. Knowledge of canine genome organization and new molecular tools, such as aCGH (array comparative genome hybridization), SNP (single nucleotide polymorphism) microarray, and ddPCR (droplet digital PCR) allow the identification of chromosomal rearrangements. It is anticipated that the comprehensive use of chromosome banding, FISH, and molecular techniques will substantially improve the diagnosis of chromosome abnormalities in dogs.

The epidemiology of sex chromosome abnormalities

2020 ◽  
Vol 184 (2) ◽  
pp. 202-215
Author(s):  
Agnethe Berglund ◽  
Kirstine Stochholm ◽  
Claus Højbjerg Gravholt
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities

scholarly journals Sex Chromosome Meiotic Drive in Stalk-Eyed Flies

Genetics ◽  
1997 ◽  
Vol 147 (3) ◽  
pp. 1169-1180 ◽  
Author(s):  
Daven C Presgraves ◽  
Emily Severance ◽  
Gerald S Willrinson
Keyword(s):  
Sex Ratio ◽  
Sex Chromosome ◽  
Sex Ratios ◽  
Natural Populations ◽  
Meiotic Drive ◽  
Operational Sex Ratio ◽  
Genetic Modifiers ◽  
Ratio Distortion ◽  
The Impact ◽  
Sex Ratio Distortion

Meiotically driven sex chromosomes can quickly spread to fixation and cause population extinction unless balanced by selection or suppressed by genetic modifiers. We report results of genetic analyses that demonstrate that extreme female-biased sex ratios in two sister species of stalk-eyed flies, Cyrtodiopsis dalmanni and C. whitei, are due to a meiotic drive element on the X chromosome (Xd). Relatively high frequencies of Xd in C. dalmanni and C. whitei (13–17% and 29%, respectively) cause female-biased sex ratios in natural populations of both species. Sex ratio distortion is associated with spermatid degeneration in male carriers of Xd. Variation in sex ratios is caused by Y-linked and autosomal factors that decrease the intensity of meiotic drive. Y-linked polymorphism for resistance to drive exists in C. dalmanni in which a resistant Y chromosome reduces the intensity and reverses the direction of meiotic drive. When paired with Xd, modifying Y chromosomes (Ym) cause the transmission of predominantly Y-bearing sperm, and on average, production of 63% male progeny. The absence of sex ratio distortion in closely related monomorphic outgroup species suggests that this meiotic drive system may predate the origin of C. whitei and C. dalmanni. We discuss factors likely to be involved in the persistence of these sex-linked polymorphisms and consider the impact of Xd on the operational sex ratio and the intensity of sexual selection in these extremely sexually dimorphic flies.

scholarly journals X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

Endocrinology ◽  
2013 ◽  
Vol 154 (3) ◽  
pp. 1092-1104 ◽  
Author(s):  
Xuqi Chen ◽  
Rebecca McClusky ◽  
Yuichiro Itoh ◽  
Karen Reue ◽  
Arthur P. Arnold
Keyword(s):  
Body Weight ◽  
Y Chromosome ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Gonadal Hormones ◽  
Xy Model ◽  
Second Sex ◽  
Metabolic Variables ◽  
Novel Model

Abstract Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) “four core genotypes” mice, comprising XX and XY gonadal males, and XX and XY gonadal females; 2) the XY* model comprising groups similar to XO, XX, XY, and XXY; and 3) a novel model comprising 6 groups having XO, XX, and XY chromosomes with either testes or ovaries. In gonadally intact mice, gonadal males were heavier than gonadal females, but sex chromosome complement also influenced weight. The male/female difference was abolished by adult gonadectomy, after which mice with 2 sex chromosomes (XX or XY) had greater body weight and percentage of body fat than mice with 1 X chromosome. A second sex chromosome of either type, X or Y, had similar effects, indicating that the 2 sex chromosomes each possess factors that influence body weight and composition in the MF1 genetic background. Sex chromosome complement also influenced metabolic variables such as food intake and glucose tolerance. The results reveal a role for the Y chromosome in metabolism independent of testes and gonadal hormones and point to a small number of X–Y gene pairs with similar coding sequences as candidates for causing these effects.

Sperm Competition and the Dynamics of X Chromosome Drive: Stability and Extinction

Genetics ◽  
2002 ◽  
Vol 160 (4) ◽  
pp. 1721-1731 ◽  
Author(s):  
Jesse E Taylor ◽  
John Jaenike
Keyword(s):  
Sex Ratio ◽  
Sperm Competition ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Basin Of Attraction ◽  
Male Mating ◽  
Male And Female ◽  
Mating Rate ◽  
Female Mating ◽  
Balanced Polymorphism

AbstractSeveral empirical studies of sperm competition in populations polymorphic for a driving X chromosome have revealed that Sex-ratio males (those carrying a driving X) are at a disadvantage relative to Standard males. Because the frequency of the driving X chromosome determines the population-level sex ratio and thus alters male and female mating rates, the evolutionary consequences of sperm competition for sex chromosome meiotic drive are subtle. As the SR allele increases in frequency, the ratio of females to males also increases, causing an increase in the male mating rate and a decrease in the female mating rate. While the former change may exacerbate the disadvantage of Sex-ratio males during sperm competition, the latter change decreases the incidence of sperm competition within the population. We analyze a model of the effects of sperm competition on a driving X chromosome and show that these opposing trends in male and female mating rates can result in two coexisting locally stable equilibria, one corresponding to a balanced polymorphism of the SR and ST alleles and the second to fixation of the ST allele. Stochastic fluctuations of either the population sex ratio or the SR frequency can then drive the population away from the balanced polymorphism and into the basin of attraction for the second equilibrium, resulting in fixation of the SR allele and extinction of the population.

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