SEX CHROMOSOMES: GENETICS, ABNORMALITIES AND DISORDERS -- SEX CHROMOSOMES: GENETICS, ABNORMALITIES AND DISORDERS -- Contents -- Preface -- Sex Chromosomes and the Genetics of Gender Differences -- Abstract -- Introduction -- The Human Sex Chromosomes -- Evolution of the Mammalian Sex Chromosomes -- Functional Specialisation of X and Y Genes -- Dosage Compensation in Mammals -- Sexual Dimorphisms and the Sex Chromosomes -- Sex Chromosome Genes and Reproductive Functions -- Sex-Linked Genes and Sexual Dimorphisms in the Brain -- Disease Susceptibility and Presentation in Males and Females -- Conclusion -- Acknowledgments -- References -- Is There Always the Agreement of Chromosomal and Phenotypic Sex? -- Abstract -- Introduction -- Material -- Conclusion -- References -- Genomic Imprinting, X Chromosome Inactivation and Gestational Trophoblastic Diseases -- Abstract -- Introduction -- Placenta Development and Trophoblastic Cells -- Genomic Imprinting and Placental Development -- Gestational Trophoblastic Diseases: Abnormal Genomes and Genomic Imprinting -- X Chromosome Inactivation and Placental Development -- Paternal X Chromosome in the Pathogenesis of Human Trophoblastic Diseases -- Conclusion -- References -- Insights into Mammalian X-Linked Gene Function from X-Monosomy and X-Polysomy -- Abstract -- Introduction -- X-Monosomy -- X-Polysomy -- Conclusion -- Acknowledgments -- References -- The Fertile XY Females of Akodon (Rodentia, Sigmodontinae). The Case of A. azarae and A. boliviensis -- Abstract -- Introduction -- The Chromosomes of A. azarae and A. boliviensis -- Sequence of Sry in A. azarae and A. boliviensis -- Hereditary Aspects of XY Sex Reversal in A. azarae -- Conclusion -- Acknowledgments -- References -- Preimplantation Diagnosis for Aneuploidy Screening: A New Era beyond FISH -- Abstract -- 1. Introduction.

2. Indications for Preimplantation Diagnosis -- 2.1. Monogenic Diseases and HLA Typing -- 2.2. Structural Chromosome Rearrangements -- 2.3. Aneuploidy Screening -- 2.3.1. Advanced Maternal Age (AMA) -- 2.3.2. Recurrent Miscarriage (RM) -- 2.3.3. Repetitive Implantation Failure (RIF) -- 2.3.4. Severe male factor (SMF) -- 3. Aneuploidy Detection Techniques Employed in PGS -- 3.1. FISH -- 3.2. Spectral Karyotyping (SKY) -- 3.3. Comparative Genomic Hybridization (CGH) -- 3.4. CGH Arrays for Aneuploidy Detection -- Summary -- Conclusion -- References -- The W Chromosome Evolution and Sex-Linked Gene Expression in the Japanese Frog Rana Rugosa -- Abstract -- Introduction -- Results -- Discussion -- The W Chromosome Evolution of Rana Rugosa -- Change of Sex-Linked Gene Expression -- Materials and Methods -- Frogs, Metaphase Chromosome Preparation and DNA Extraction -- Comparative Genomic Hybridization (CGH) and Reverse Fluorescent Banding with DAPI/CMA -- Fluorescence in Situ Hybridization (FISH) -- Degenerate Oligonucleotide Primed (DOP) PCR and Cloning -- Expression Analysis by PCR -- Acknowledgments -- References -- The Y Chromosome of Drosophila melanogaster and the Enigma of 'Functional Heterochromatin -- Abstract -- Introduction -- Conclusion -- References -- XY Male Pseudohermaphroditism -- Abstract -- I. Introduction -- II. Abnormal Sex Differentiation in XY Subjects -- A. The Sex Reversal Syndrome -- B. The Androgen Insensitivity Syndrome -- C. The Persistency of Müllerian Ducts Syndrome -- III. Approaching a XY Pseudohermaphroditism Condition -- Conclusion -- References -- Genetics and Epigenetics Variation in the Sex Chromosomes and Their Impact on Morphological Changes and Parapatric Speciation: Species of the Genus Mepraia in Chile (Hemiptera: Reduviidae) a Case Study -- Abstract -- Introduction.

The Discovery and History of the Sex Chromosomes -- The Chromosomal and Genetics Balance in Sex Determination -- The Role of Facultative Heterochromatin in Sex Determination -- The Importance of Constitutive Heterochromatin and Non-Transcriptional Genes in Eukaryotic Organisms -- Changes of Sex Determination in the Evolution -- Sex Holocentric Chromosomes Variation in the Subfamily Triatominae (Reduviidae) -- Sex Chromosome Variation in M.Gajardoi And M.Spinolai -- Morphology Differences between M.Gajardoi and M.Spinolai -- Chromosomal Sex Variation and Parapatric Speciation in M.Spinolai and M.Gajardoi -- Acknowledgments -- References -- Compensation Contemplation -- Abstract -- Introduction -- Dosage Dependent Gene Regulation and Intrinsic Dosage Compensation -- Dosage Dependent Regulatory Genes and Compensation -- Do Sex Chromosome Dosage Compensation Mechanisms Utilize Intrinsic Compensation? -- The Specific Case of Drosophila Dosage Compensation -- Sequestration of the MSL Complex to the X Chromosome Alters the Genomic Response to Dosage Dependent Regulators -- Dosage Compensation in the Absence of the MSL Complex -- The MSL Complex Overrides the Impact of Histone Modification on Gene Expression -- Interactions of Chromatin Components with the Male X Chromosome -- Trans-Acting Dosage Effects and a Model for Dosage Compensation -- Conclusion -- Acknowledgments -- References -- Dosage Compensation: From Mice to Humans to Birds and Back Again -- Abstract -- Introduction -- How Is Dosage Compensation Achieved in Mice? -- Regulation of the Imprinted X in Mice during Preimplantation -- Regulation of the Imprinted X in Mice in Extraembryonic Tissues -- Regulation of the Imprinted X in Mice in Extraembryonic Tissues -- Reactivation Followed by Random X Inactivation in the Inner Cell Mass in Mice.

X Chromosome Reactivation in the Primordial Germ Cells in Mice -- Visualizing the Human Sex Chromosomes and X Inactivation -- How Is Dosage Compensation Achieved in Humans? -- Sex Chromosome Abnormalities and Phenotypes in Humans -- Relationship between Meiosis and Sex Chromosome Aneuploidies in Humans -- Skewed X Chromosome Inactivation in Humans -- The Inheritance Sex-Linked Disorders via the X Chromosome in Humans -- X-Linked Mental Retardation in Humans -- Birds, Mammals and Sex Determination -- Do Birds and Mammals Use a Similar Mechanism To Achieve Dosage Compensation? -- Conclusion -- Acknowledgments -- References -- Index.