Chromosome disorders

Advanced age is associated with cognitive and physical decline and is a major risk factor for a multitude of disorders. There is also a gap in life expectancy between males and females. DNA methylation differences have been shown to be associated with both age and sex.

11p vibransone 28-03-2024 2 2   Download

Midbrain dopaminergic neurons (MDN) represent 0.0005% of the brain’s neuronal population and mediate cognition, food intake, and metabolism. MDN are also posited to underlay the neurobiological dysfunction of schizophrenia (SCZ), a severe neuropsychiatric disorder that is characterized by psychosis as well as multifactorial medical co-morbidities, including metabolic disease, contributing to markedly increased morbidity and mortality.

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Germline chromothripsis causes complex genomic rearrangements that are likely to affect multiple genes and their regulatory contexts. The contribution of individual rearrangements and affected genes to the phenotypes of patients with complex germline genomic rearrangements is generally unknown.

14p vioraclene 31-03-2024 2 2   Download

Non-invasive prenatal testing (NIPT) as a screening method for common chromosomal abnormalities such as trisomy 21, 18, and 13 has been widely adopted. In the last five years, the possibility of NIPT to detect common single-gene disorders (SGD) due to de novo mutations or paternal inherited had been reported worldwide.

8p vilarry 12-03-2024 1 1   Download

In China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental delay. Our study aimed to evaluate the genetic profile of SGA newborns in the newborn intensive care unit (NICU) and establish a prognosis prediction model by combining clinical and genetic factors.

15p vicwell 29-02-2024 4 2   Download

Part 1 book "Introduction to veterinary genetics" includes content: Basic genetics, molecular biology, single-gene disorders, chromosomal aberrations, single genes in populations, familial disorders not due to a single gene, is it inherited, immunogenetics.

182p muasambanhan06 03-02-2024 3 1   Download

Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enable dedicated monitoring of any complications at the ophthalmic and skin level.

6p vilazada 31-01-2024 3 2   Download

Prader–Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader–Willi syndrome-critical region on chromosome 15 (15q11.2-q13). The main clinical features are hyperphagia (which frequently results in early-onset obesity), hypogonadism, developmental delays, typical behaviors (such as obsessive–compulsive tendencies, tantrums, perseveration, insistence on sameness, and rigidity), and distinctive facial features.

4p vitiki 30-01-2024 3 2   Download

The 18q-deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings.

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Part 1 book "The genetics of the pig" includes content: Systematics and evolution of the pig, genetic aspects of pig domestication, molecular genetics of coat colour variation, genetics of morphological traits and inherited disorders, molecular genetics, immunogenetics, cytogenetics and chromosome maps, pig genomics, behaviour genetics of the domestic pig, biology and genetics of reproduction.

251p muasambanhan05 22-01-2024 4 2   Download

Part 2 book "Insights from animal reproduction" includes content: The primordial to primary follicle transition — a reliable marker of ovarian function, sperm motility regulatory proteins - a tool to enhance sperm quality, the effects of extremely low frequency magnetic fields on reproductive function in rodents, chromosome abnormalities in domestic animals as causes of disorders of sex development or impaired fertility, proliferative endometrial lesions hidden behind the feline.

102p muasambanhan02 25-12-2023 1 1   Download

Part 1 book "The genetics of the dog" includes content: Canid phylogeny and origin of the domestic dog, experimental studies of early canid domestication, the history and relationships of dog breeds, molecular genetics of coat colour, texture and length in the dog, mendelian traits in the dog, canine immunogenetics, the genetics of canine orthopaedic traits, genetics of cancer in dogs, genetics of neurological disease in the dog, genetics of eye disorders in the dog, canine cytogenetics and chromosome maps, canine genomics.

291p muasambanhan02 25-12-2023 5 2   Download

Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.

197p oursky09 08-11-2023 4 2   Download

Part 1 book "The genetics of cattle" includes content: Systematics and phylogeny of cattle, genetic aspects of domestication, breeds of cattle, molecular genetics of coat colour variation, genetics of morphological traits and inherited disorders, cytogenetics and chromosome maps, bovine genomics, bovine immunogenetics, genetics of disease resistance,... and other contents.

328p oursky05 20-09-2023 5 1   Download

Part 1 book "Genetics in medicine" includes content: Introduction to the human genome; the human genome, human genetic diversity - mutation and polymorphism; principles of clinical cytogenetics and genome analysis; the chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes; patterns of single gene inheritance,.... and other contents.

197p oursky05 20-09-2023 3 1   Download

Cri du chat syndrome (CdCS) is a chromosomal disorder resulting from a deletion in the short arm of chromosome 5. Anatomical abnormalities of the larynx result in a distinctive high-pitched, cat-like cry for which the disorder is named. Typical findings of the syndrome involve the upper airway, cardiovascular, and central nervous system (CNS).

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Myeloid leukemia (ML) is a cancer of the blood that begins when cells of the myeloid lineage uncontrollably change and grow. Acute myeloid leukemia (AML) is a disorder of rapid, uncontrolled growth of immature myeloid cells in the blood and bone marrow. Chronic myeloid leukemia (CML) is characterized by the aberrant proliferation of myeloid cells and driven by the translocation of regions of the BCR and ABL genes to form the Philadelphia (Ph) chromosome.

8p vimulcahy 18-09-2023 5 3   Download

Part 2 book "100 Case studies in pathophysiology" includes content: Neuroendocrine disorders, chromosome abnormality disorders, female reproductive system disorders, male reproductive system disorders, immunologic disorders musculoskeletal disorders, diseases of the skin, diseases of the blood, disorders of the eyes, ears, nose, and throat nutritional disorders, sexually transmitted diseases, appendices.

274p oursky04 05-09-2023 0 0   Download

Part 1 book "Emery’s elements of medical genetics" includes content: The history and impact of genetics in medicine, the cellular and molecular basis of inheritance, chromosomes and cell division, finding the cause of monogenic disorders by identifying disease genes, laboratory techniques for diagnosis of monogenic disorders, patterns of inheritance, population and mathematical genetics, risk calculation, developmental genetics.

223p oursky03 21-08-2023 2 2   Download

Part 2 book "Emery’s elements of medical genetics" includes content: Congenital abnormalities, dysmorphic syndromes, and learning disability; chromosome disorders; inborn errors of metabolism; mainstream monogenic disorders; genetic counseling, mainstream monogenic disorders; prenatal testing and reproductive genetics; ethical and legal issues in medical genetics.

186p oursky03 21-08-2023 3 2   Download