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Abnormal chromosomal
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Isodicentric Y is one of the most common structural abnormalities of the Y chromosome. It is unstable during cell division, can generate various types of cell lines. Most reported patients are chromosomal mosaics, generally including a 45,X cell line.
6p
vicarlos
11-06-2024
1
0
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The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p
viellison
28-03-2024
3
2
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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
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Being expressed in all stages of B-cell development and having a significant value on the European Group for the Immunological Characterization of Acute Leukemias scoring system, CD79a is considered as an excellent pan-marker for lineage assignment of B cells by flow cytometry.
6p
vilazada
31-01-2024
7
2
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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
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Telomere dysfunction results in aneuploidy, and ongoing chromosomal abnormalities. The threedimensional (3D) nuclear organization of telomeres allows for a distinction between normal and tumor cells. On the other hand, aurora kinase genes (AURKA and AURKB) play an important role regulating the cell cycle.
11p
vialfrednobel
23-12-2023
5
3
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Part 1 book "Horse genetics" includes content: Putting it all together - color by design, parentage testing, medical genetics, the horse karyotype and chromosomal abnormalities, genetics of performance, pedigrees and breeding schemes, y chromosomes, mitochondria, epigenetics, and incomplete penetrance, genetic nature of breeds, equus, frequently asked questions, where do we go from here.
120p
oursky07
23-10-2023
3
2
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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).
4p
viintuit
26-09-2023
2
0
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Chronic myeloid leukemia (CML) is a chronic myeloproliferative neoplasm characterized by excess granulocytes at different stages of maturation and the presence of BCR-ABL1 fusion gene or Philadelphia chromosome. Absolute eosinophilia, basophilia, and monocytosis are not uncommon in CML.
5p
viintuit
26-09-2023
1
0
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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
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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
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Down’s syndrome is the most common chromosomal abnormality in humans. It has been associated with central nervous system tumors such as primary acute lymphoblastic leukemia and germinomas, but desmoplastic infantile astrocytoma has not yet been reported with Down’s syndrome.
9p
vigamora
23-05-2023
5
2
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To evaluate the correlation between the concentration of AMH (Anti-mullerian hormone) with the number of oocytes and embryos obtained in general and in each maternal age group, in particular on infertile patients undergoing in vitro fertilization (IVF) combined with preimplantation genetic testing for aneuploidy (PGT-A).
9p
videadpool
06-05-2023
3
2
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Chromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver dysfunction is not normally one of them. Alagille syndrome (OMIM #118450) is a multisystem disorder that is defned clinically by hepatic bile duct paucity and cholestasis, in association with cardiac, skeletal, and ophthalmologic manifestations, and characteristic facial features.
6p
videadpool
05-05-2023
7
2
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Repeat breeding, which is defined as cattle failure to conceive after three or more inseminations in the absence of clinical abnormalities, is a substantial problem in cattle breeding. To identify maternal genetic variants of repeat breeding in Japanese Black cattle, we selected 29 repeat-breeding heifers that failed to conceive following embryo transfer (ET) and conducted a genome-wide association study (GWAS) using the traits.
12p
vinarcissa
21-03-2023
4
1
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Down syndrome incidence in humans increases dramatically with maternal age. This is mainly the result of increased meiotic errors, but factors such as differences in abortion rate may play a role as well. Since the meiotic error rate increases almost exponentially after a certain age, its contribution to the overall incidence aneuploidy may mask the contribution of other processes.
8p
vinarcissa
21-03-2023
5
1
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Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the second child at birth and post-partum - peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy and suspected metabolic and chromosomal abnormalities.
5p
vinarcissa
21-03-2023
6
1
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Accumulation of DNA damage, mutations, and chromosomal abnormalities is associated with aging in many organisms. How directly various forms of genomic instability contribute to lifespan in different aging contexts is still under active investigation.
15p
vinarcissa
21-03-2023
5
1
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Continued part 1, part 2 of ebook "Basics of abdominal, gynaecological, obstetrics and small parts ultrasound" provide readers with content about: obstetric ultrasound; colour doppler sonography in obstetrics; chromosomal abnormalities; ultrasound of small parts and superficial organs; neonatal cranial ultrasound;... Please refer to the part 2 of ebook for details!
77p
duonghoanglacnhi
07-11-2022
13
7
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Non-invasive prenatal testing (NIPT) is being applied more widely in Vietnam. However, the effects of NIPT on prenatal diagnosis have not been studied much in our country. This study aims to analyze the impact of NIPT on the changes in the number of routine screening tests for chromosomal abnormalities 21, 18, and 13 and the impact of NIPT on invasive prenatal diagnostic procedures and propose strategies to screen for fetal aneuploidy.
7p
vimclaren
20-10-2022
5
2
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