Karyotype abnormalities

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   Download

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   Download

Chromosome instability leads to aneuploidy, a state in which cells have abnormal numbers of chromosomes, and is found in two out of three cancers. In a chromosomal instable p53 deficient mouse model with accelerated lymphomagenesis, we previously observed whole chromosome copy number changes affecting all lymphoma cells.

15p viaristotle 29-01-2022 14 0   Download

Atypical external genitalia are often a sign of reproductive organ pathologies and infertility with both environmental or genetic causes, including karyotypic abnormalities. Genome-wide association studies (GWAS) provide a means for identifying chromosomal regions harboring deleterious DNA-variants causing such phenotypes.

9p vilichoo2711 25-06-2021 15 1   Download

Because of the need for more data on the knowledge of the recurrence risks involved in case of Heteromorphisms and karyotype abnormalities, the present study was undertaken with the objective of investigating the role of heteromorphic variations and karyotype anomalies on infertility in male and female subjects.

14p cothumenhmong7 09-09-2020 12 1   Download

Acute Lymphocytic leukemia (ALL) is the most common cancer in children. 139 patients were diagnosed with ALL at National Children’s Hospital - Hanoi- Vietnam from January/2107 to June/2018. Karyotype analysis and Fluorescence hybridization (FISH) techniques were applied to detect chromosomal abnormalities.

4p vistockholm2711 13-12-2019 7 1   Download

Karyotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients. We emphasized the importance of chromosomal analysis and reported the most frequent cytogenetic abnormalities in 50 MDS (29 males (58%) and 21 females (42%), median age: 57.5 years) Egyptian patients using conventional banding analysis (CBA). Karyotype description was conducted according to the International System for Human Cytogenetic Nomenclature (ISCN, 2013).

7p trinhthamhodang1 14-11-2019 17 1   Download

Tissue culture regenerated materials of Musa L. spp. (banana and plantain) along with their somaclonal variants were assessed for karyotype abnormalities to be used as indicators for rapid cytological marking. The results show that although slight variations were noted in karyomorphometric characters, like chromosome number, arm length, total chromosome length, and total chromosome volume, these were not significant (P ≤ 0.05).

5p vibasque27 29-03-2019 21 0   Download

Concept hiện tại: myelodysplasia ultimately bnhân sẽ chết vì không tạo được máu đỏ (thường đến hematologist vì anemia), sau đó sẽ suy tủy toàn diện đưa đến chết. Chưã trị hiện nay: chỉ có cách cell support (tức là truyền máu đỏ) cho đến khi chết . Thường bnhân không sống quá 1-2 năm (transfusion demand càng ngày càng gần, rồi iron overload vì transfusion qúa nhiều). Concept mới: trong myelodysplasia, có một nhóm bnhân thuộc 5 q deletion (note: khoảng dưới 60% bnhân myelodysplasia có karyotypic abnormalities). Trong bnhân myelodysplasia có khoảng 10-15 % bnhân thuộc nhóm...

3p nganluong111 14-04-2011 53 3   Download

Table 103-4 Risk Stratification for Idiopathic Myelofibrosis A. Prognostic factorsa Hemoglobin 30,000/µL Number of prognostic factors Risk group Median survival (months) 0 Low 93 1–2 High 17 B. Prognostic factorsb Hemoglobin 1% Number of prognostic factors Risk group Median survival (months) 0–1 Low 99 2–3 High 21 C.

5p thanhongan 07-12-2010 80 2   Download